primitive portal vein thrombosis

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


inflammatory skin and bowel disease, neonatal, 1

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

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


distal biliary tract carcinoma

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


colorectal neoplasm

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


maternally-inherited diabetes and deafness

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


sporadic porphyria cutanea tarda

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


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

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


ileal neuroendocrine tumor G1

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


diabetes mellitus, noninsulin-dependent, 4


cholestasis, progressive familial intrahepatic, 8


gastric neuroendocrine tumor, well differentiated, low or intermediate grade

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


rectum carcinoma in situ

A in situ carcinoma that involves the rectum.


autoimmune hepatitis type 2

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


esophageal adenosquamous carcinoma

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


extrahepatic biliary papillomatosis

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


bile duct adenocarcinoma

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


squamous cell carcinoma of the small intestine

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


gallbladder small cell neuroendocrine carcinoma

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


gastric linitis plastica

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


visceral neuropathy, familial, 3, autosomal dominant


solid pseudopapillary carcinoma of pancreas

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


lymphoplasmacytic inflammatory pseudotumor of the liver

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


diffuse gastric adenocarcinoma

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


progressive familial intrahepatic cholestasis

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


hereditary gallbladder disorder

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


Sandifer syndrome

Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.


pyloric stenosis, infantile hypertrophic, 4


Waardenburg syndrome type 4C

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


amebic dysentery

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


colorectal carcinoma

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


rectal villous adenoma

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


signet ring cell intrahepatic cholangiocarcinoma

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


recurrent acute pancreatitis

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


intestinal helminthiasis

A parasitic helminthiasis infectious disease that involves the intestine.


extrahepatic bile duct neoplasm

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


Polymerase proofreading-related adenomatous polyposis

An autosomal dominant condition caused by mutation(s) in the POLE and/or POLD1 genes, encoding DNA polymerase epsilon catalytic subunit A and DNA polymerase delta catalytic subunit, respectively. It is characterized by colorectal polyposis and a predisposition to colorectal cancer. Mutation(s) in POLE and/or POLD1 genes have been associated with an increased risk of endometrial cancer, breast and brain tumors, and multi-tumor phenotypes.


attenuated familial adenomatous polyposis

Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.


gastric small cell neuroendocrine carcinoma

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


diarrheal disease secondary to decreased bowel motility

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


extrahepatic bile duct signet ring cell carcinoma

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


suppurative cholangitis

Cholangitis that is characterized by pyogenic organisms.


gastric squamous cell carcinoma

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


appendix leiomyoma

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


gallbladder neuroendocrine tumor, grade 1/2

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


intestinal schistosomiasis

An intestinal infection that is caused by Schistosoma japonicum.


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

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


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


giardiasis

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


benign colon neoplasm

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


transient neonatal diabetes mellitus

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


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

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


coenurosis

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


pancreatic lipomatosis duodenal stenosis


tonsil squamous cell carcinoma

A squamous cell carcinoma that involves the tonsil.


Blastocystis infectious disease

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


pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma

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


infectious colitis

A viral or bacterial infectious process affecting the large intestine.


spleen cancer

A malignant neoplasm involving the spleen


inflammatory bowel disease 13

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


secretory diarrhea

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


carcinoma of the ampulla of vater

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


adult hepatocellular carcinoma

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


non-alcoholic fatty liver disease

A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.


leather-bottle stomach

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


gallbladder carcinoma

A carcinoma that arises from epithelial cells of the gall bladder


familial adenomatous polyposis due to 5q22.2 microdeletion


esophageal adenocarcinoma

A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.


gastric non-hodgkin lymphoma

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


maturity-onset diabetes of the young type 6

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


chronic enteropathy associated with SLCO2A1 gene


functional colonic disease

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


rectal cloacogenic carcinoma

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


autosomal dominant hyperinsulinism due to Kir6.2 deficiency

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


extrahepatic bile duct cystadenoma

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


chronic atrial and intestinal dysrhythmia

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


fulminant viral hepatitis

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


bile duct adenoma

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


epithelial tumor of the appendix

A epithelial neoplasm that involves the vermiform appendix.


DEND syndrome

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


small intestinal bacterial overgrowth

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


macrotrabecular hepatoblastoma

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


gallstones

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


adenocarcinoma of liver and intrahepatic biliary tract


colorectal squamous cell carcinoma

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


ampulla of vater adenosquamous carcinoma

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


rectosigmoid carcinoma

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


pediatric hepatocellular carcinoma

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


inflammatory bowel disease 24

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


pancreatic adenosquamous carcinoma

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


Hirschsprung disease-hearing loss-polydactyly syndrome

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


hyperinsulinism due to INSR deficiency

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


achalasia microcephaly syndrome

Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed.


sigmoid neoplasm

Tumors or cancer of the sigmoid colon.


Salmonella gastroenteritis

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


juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome


acute hepatitis C virus infection

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


mixed fibrolamellar hepatocellular carcinoma

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


sublingual gland cancer

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


extrahepatic bile duct rhabdomyosarcoma

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


progressive familial intrahepatic cholestasis type 3

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


transient familial neonatal hyperbilirubinemia

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


congenital diarrhea 7 with exudative enteropathy

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


congenital diarrhea 5 with tufting enteropathy

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


oral cavity squamous cell carcinoma

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


diffuse cavernous hemangioma of the rectum


tumor of duodenum

A neoplasm (disease) that involves the duodenum.


lip carcinoma in situ

A in situ carcinoma that involves the lip.


congenital enteropathy due to enteropeptidase deficiency

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


infantile liver failure syndrome 1

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


intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked

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


small intestinal sarcoma

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


solitary rectal ulcer syndrome

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


pancreatic non-invasive mucinous cystadenocarcinoma

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


low phospholipid associated cholelithiasis

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


gastric mucosa-associated lymphoid tissue lymphoma

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


mucocele of appendix

Accumulation of mucus within the appendix.


small intestinal tubular adenoma

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


vallecula cancer

A cancer involving a epiglottic vallecula.


benign neoplasm of rectum

A benign neoplasm that involves the rectum.


MALT lymphoma

An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)


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

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


pancreatic small cell neuroendocrine carcinoma

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


rectal signet ring cell adenocarcinoma

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


liver neuroendocrine carcinoma

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


Satoyoshi syndrome

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


disorder of appendix

A disease or disorder that involves the vermiform appendix.


lip cancer

A primary or metastatic malignant neoplasm involving the lip.


Caroli disease

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


pancolitis

Ulcerative colitis that involves the entire colon.


gastroduodenal Crohn disease

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


pancreatic mucinous-cystic neoplasm

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


endometriosis of intestine

Endometriosis that affects the intesines.


digestive system melanoma

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


hepatopulmonary syndrome

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


rectal hyperplastic polyp

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


intestinal tuberculosis

A tuberculosis that involves the intestine.


pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma

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


neoplasm of oropharynx

A neoplasm (disease) that involves the oropharynx.


ampulla of vater mucinous adenocarcinoma

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


salivary gland mucoepidermoid carcinoma

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


intestinal disease due to fat malabsorption


liver cavernous hemangioma

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


An intrahepatic cholangiocarcinoma that produces abundant mucin.


4-hydroxyphenylacetic aciduria

Increased concentration of 4-hydroxyphenylacetic acid in the urine.


small intestine disorder

A disease that involves the small intestine.


colorectal adenocarcinoma

The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.


anal canal cancer

A malignant neoplasm involving the anal canal


autoimmune cholangitis

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


squamous cell carcinoma of colon

A squamous cell carcinoma that involves the colon.


pancreatic vasoactive intestinal peptide producing tumor

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


mandibular cancer

A malignant neoplasm involving the mandible


neurofibroma of gallbladder

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


pancreatic large cell neuroendocrine carcinoma

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


rectal sarcomatoid carcinoma

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


duodenal neuroendocrine neoplasm

A neuroendocrine neoplasm that involves the duodenum.


stomach carcinoma in situ

A in situ carcinoma that involves the stomach.


familial colorectal cancer

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


septic peritonitis

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


gallbladder papillary neoplasm with an associated invasive carcinoma

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


appendix carcinoma

A carcinoma that arises from epithelial cells of the vermiform appendix


salivary gland carcinoma ex pleomorphic adenoma

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


anal margin basal cell carcinoma

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


stomach diverticulosis

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


Arroyo Garcia Cimadevilla syndrome

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


stomach polyp

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


small intestinal vasoactive intestinal peptide producing tumor

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


splenic manifestation of prolymphocytic leukemia

A prolymphocytic leukemia that involves the spleen.


Aagenaes syndrome

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


liver solitary fibrous tumor

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


megacystis-microcolon-intestinal hypoperistalsis syndrome 3


intraductal tubulopapillary neoplasm of pancreas


juvenile polyposis syndrome

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


anal margin squamous cell carcinoma

A squamous cell carcinoma arising from the perianal skin.


choledocholithiasis

Presence or formation of gallstones in the common bile duct.


displacement of cardia through esophageal hiatus


gallbladder adenocarcinoma

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


diabetes mellitus, noninsulin-dependent, 2


anal canal carcinoma in situ

A carcinoma in situ involving a anal canal.


colon carcinoma in situ

A in situ carcinoma that involves the colon.


salivary gland squamous cell carcinoma

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


aplasia cutis congenita-intestinal lymphangiectasia syndrome

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


rectum sarcoma

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


colorectal adenosquamous carcinoma

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


undifferentiated (embryonal) sarcoma

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


rectum rhabdomyosarcoma

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


hepatitis C induced liver cirrhosis

Liver injury resulting from hepatitis C infection.


Meckel diverticulum neoplasm

A neoplasm involving a Meckel's diverticulum.


gallbladder lymphoma

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


diverticulitis of colon

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


acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.


colorectal cancer, hereditary nonpolyposis, type 7

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


seronegative autoimmune hepatitis

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


gastric cardia carcinoma

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


MYO5B-related progressive familial intrahepatic cholestasis


glucagonoma

Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.


pancreatic cystadenoma

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


autosomal dominant polycystic liver disease

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


congenital sucrase-isomaltase deficiency without starch intolerance


Peutz-Jeghers polyp of the stomach

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


pancreatic signet ring cell adenocarcinoma

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


angiodysplasia of stomach

A angiodysplasia that involves the stomach.


intrahepatic biliary papillomatosis

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


esophagus liposarcoma

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


esophageal leukoplakia

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


combined hepatocellular carcinoma and cholangiocarcinoma

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


cecum carcinoma

A carcinoma that arises from epithelial cells of the caecum


liver lipoma

A rare benign adipose tissue neoplasm of the liver.


acute cholangitis

Cholangitis that is both sudden in onset and of a relatively short duration.


alcoholic fatty liver disease

Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated.


congenital esophageal diverticulum

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


bile duct mucinous cystic neoplasm with an associated invasive carcinoma

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


chronic intestinal pseudoobstruction

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


diabetes mellitus, noninsulin-dependent, 1


Barrett adenocarcinoma

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


inflammatory bowel disease 15

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


trichohepatoenteric syndrome 2

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


intestinal lymphangiectasia

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


gallbladder adenoma

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


intestinal neuroendocrine neoplasm

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


diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency


anal squamous cell carcinoma

A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC.


undifferentiated carcinoma of esophagus

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


pancreatic ductal adenocarcinoma

An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor.


anal gland adenocarcinoma

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


lipoma of the rectum

A benign adipose tissue neoplasm of the rectum.


Cronkhite-Canada syndrome

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


gallbladder lipoma

A benign adipose tissue neoplasm involving the gallbladder wall.


colon neuroendocrine neoplasm

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


food protein-induced allergic proctocolitis

A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins.


Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.


intestinal disaccharidase deficiency

Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age.


gastric neuroendocrine tumor G2

A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.


gastric neuroendocrine neoplasm

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


epithelial tumor of anal canal

A epithelial neoplasm that involves the anal canal.


pancreatic serous cystadenoma

A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.


extrahepatic bile duct mucoepidermoid carcinoma

A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts.


Meckel diverticulitis

Inflammation of a congenital diverticulum of the lower intestine.


Peutz-Jeghers polyp

A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002


carcinoma of hard palate

A carcinoma that involves the hard palate.


perianal Crohn disease

An Crohn disease involving a pathogenic inflammatory response in the anal canal.


visceral leiomyopathy, African degenerative


esophageal squamous cell carcinoma

Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.


inflammatory bowel disease 3

An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.


POLD1-related polyposis and colorectal cancer syndrome

An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer.


pancreatic foamy gland adenocarcinoma

A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm.


familial adenomatous polyposis 2

An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.


congenital sucrase-isomaltase deficiency with starch and lactose intolerance


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

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


ALPI-related inflammatory bowel disease

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


intestinal disease due to vitamin absorption anomaly


neonatal diabetes mellitus with congenital hypothyroidism

A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others


hepatic vascular disorder

A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma.


inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive


neoplasm of esophagus

A neoplasm (disease) that involves the esophagus.


neonatal inflammatory skin and bowel disease

Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.


gastric intestinal metaplasia

Metaplastic changes in the lining of the upper digestive tract.


intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome


Whipple disease

A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system.


hyperinsulinism-hyperammonemia syndrome

Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.


juvenile polyp

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


esophagus verrucous carcinoma

A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)


extrahepatic bile duct adenocarcinoma

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


gallbladder biliary intraepithelial neoplasia

A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.


esophagus sarcoma

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


pouchitis

Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative).


permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.


squamous cell carcinoma of liver and intrahepatic biliary tract

Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.


rectum leiomyosarcoma

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


somatostatinoma

A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1.


mixed ductal-endocrine carcinoma of pancreas

A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites.


refractory celiac disease

Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia.


porphyria due to ALA dehydratase deficiency

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.


familial colorectal cancer type X

Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes.


transverse colon cancer

A malignant neoplasm involving the transverse colon.


colorectal lymphoma

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


upper gum cancer

A cancer involving a gingiva of upper jaw.


signet ring cell gastric adenocarcinoma

A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.


primary desmosis coli

A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.


undifferentiated gallbladder carcinoma

A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma.


salivary gland carcinoma

A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.


intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.


squamous cell carcinoma of pancreas

A squamous cell carcinoma that involves the pancreas.


colon mucinous adenocarcinoma

An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.


proton-pump inhibitor-responsive esophageal eosinophilia

Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.


diabetes mellitus, transient neonatal, 3

Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.


hereditary diffuse gastric adenocarcinoma

An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.


small intestinal Burkitt lymphoma

A Burkitt lymphoma that arises from the small intestine.


tongue squamous cell carcinoma

A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.


idiopathic achalasia

A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.


gastric gastrin-producing neuroendocrine tumor

A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome.


Meckel diverticulum cancer

A cancer involving a Meckel's diverticulum.


chronic diarrhea due to glucoamylase deficiency

This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency.


gallbladder squamous cell carcinoma

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


biliary atresia intrahepatic syndromic form


pancreatic intraductal papillary-mucinous carcinoma

A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations.


diphtheritic peritonitis

A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.


fungal esophagitis

Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing.


rectum mucinous adenocarcinoma

An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.


benign recurrent intrahepatic cholestasis type 1

Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.


gastric adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the stomach


Feingold syndrome type 2

Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.


Muir-Torre syndrome

Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.


cecum villous adenoma

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


infantile liver failure syndrome 2

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


pancreatic exocrine neoplasm

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


hereditary North American Indian childhood cirrhosis

Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.


shigellosis

Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.


rectal tubular adenoma

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


immature gastric teratoma

A malignant teratoma that arises from the stomach.


appendix adenoma

A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe.


intestinal neoplasm

A benign or malignant neoplasm involving the small or large intestine.


idiopathic copper-associated cirrhosis

Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.


jejunal somatostatinoma

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


inflammatory bowel disease 2

An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1.


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.


colon signet ring cell adenocarcinoma

An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells.


colon adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the colon


jejunal neuroendocrine tumor G1

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


squamous cell carcinoma of lip

A squamous cell carcinoma that involves the lip.


ileocolitis

Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.


sigmoid disease

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


liver adenosquamous carcinoma

A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells.


duodenogastric reflux

Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach.


laryngotracheoesophageal cleft type 4

Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.


lipoma of stomach

A lipoma that involves the stomach.


maturity-onset diabetes of the young type 4

Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.


small intestine neuroendocrine neoplasm

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


hepatitis E virus infection

Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission.


Alagille syndrome due to 20p12 microdeletion


appendix neuroendocrine neoplasm

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


maxillary sinus carcinoma

A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma.


hepatoerythropoietic porphyria

A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.


gastric fundus carcinoma

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


intestinal atresia

A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine.


microvillus inclusion disease

Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.


appendiceal neoplasm

A benign or malignant neoplasm involving the appendix.


Waardenburg syndrome type 4B

A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.


perinatal necrotizing enterocolitis

A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract.


oral cavity carcinoma

A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.


rectosigmoid junction neoplasm

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


colorectal Kaposi sarcoma

A Kaposi sarcoma that arises from the colon or rectum.


familial adenomatous polyposis 4

Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100).


pancreatic endocrine carcinoma

An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.


anal canal squamous cell carcinoma

A squamous cell carcinoma arising from the mucosa of the anal canal.


biliary dyskinesia

A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction.


small intestine cancer

A primary or metastatic malignant neoplasm involving the small intestine.


undifferentiated carcinoma of liver and intrahepatic biliary tract

Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.


pancreatic tubular adenocarcinoma

A tubular adenocarcinoma that involves the pancreas.


small intestinal intraepithelial neoplasia

A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion.


inflammatory bowel disease 26

An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15.


chemical colitis

A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically.


gastric leiomyoma

A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT).


cholangiolocellular carcinoma

An intrahepatic cholangiocarcinoma that arises from the canals of Hering.


gastric liposarcoma

A malignant adipose tissue neoplasm of the stomach.


anal canal carcinoma

A carcinoma that arises from epithelial cells of the anal canal


insulin-resistance syndrome type B

Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction.


colon juvenile polyp

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


cutaneous photosensitivity-lethal colitis syndrome

Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.


intestinal motility disease

A disease that has its basis in the disruption of intestinal motility.


bacterial gastritis

Gastritis resulting from bacteria.


benign neoplasm of appendix

A benign neoplasm that involves the vermiform appendix.


anus leiomyosarcoma

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


liver adenomatosis

A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.


megacystis-microcolon-intestinal hypoperistalsis syndrome 5


Epstein-Barr virus hepatitis

A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice.


protoporphyria, erythropoietic, 1

Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21.


acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.


benign recurrent intrahepatic cholestasis

Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).


xanthogranulomatous cholecystitis

Cholecystitis that is characterized by nodules containing lipid.


opioid-induced constipation

A constipation disorder caused by use of opiods. OIC may present immediately when a patient takes the opioid, or it may present gradually during opioid therapy.


X-linked erythropoietic protoporphyria

X-linked form of erythropoietic protoporphyria.


jejunal adenocarcinoma

A adenocarcinoma that involves the jejunum.


VIPoma

VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).


Waardenburg syndrome type 4A

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


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

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

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


Lugano Classification Stage IV Adult Non-Hodgkin Lymphoma AJCC v8

Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or noncontiguous extralymphatic organ involvement in conjunction with nodal stage II disease; or any extralymphatic organ involvement in nodal stage III disease. Stage IV includes any involvement of the CSF, bone marrow, liver, or lungs (other than by direct extension in stage IIE disease). (from AJCC 8th Ed.)


type 4 somatostatin receptor binding

biolink:MolecularActivity biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Binding to a type 4 somatostatin receptor.


Cryogenic Burn

Local tissue damage due to exposure to extreme cold.


Supratentorial Gliosarcoma

A gliosarcoma arising from the supratentorial region.


Cerebral Glioblastoma

A glioblastoma that occurs in the cerebrum.


Heart Rupture, Post-Infarction

Tearing of the heart muscle as a sequela of acute myocardial infarction.


hyaluronate lyase activity

Catalysis of the reaction: hyaluronate = n 3-(4-deoxy-beta-D-gluc-4-enuronosyl)-N-acetyl-D-glucosamine.


benign granular cell tumor

A granular cell tumor that is confined to the site of origin, without metastatic potential.


cardiac granular cell neoplasm

A very rare granular cell tumor that arises from the heart.


benign peripheral nerve granular cell tumor

A benign granular cell tumor that involves the nerve.


Multiple hamartoma of lung

The presence of multiple hamartomas in the lungs.  Hamartomas are usually solitary lesions on chest-x-rays.  Multiple lung hamartomas are rare.


Increased CSF alanine concentration

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

Abnormally increased levels of alanine in cerebrospinal fluid.


Glutathionuria

Level of glutathione in the urine above the upper limit of normal.


cell cycle process

The cellular process that ensures successive accurate and complete genome replication and chromosome segregation.


medial membrane band assembly

The assembly of a sterol-rich region of the plasma membrane at the cell surface overlying the contractile ring.


attachment of meiotic spindle microtubules to meiosis II kinetochore

The cellular process in which spindle microtubules become physically associated with the proteins making up the kinetochore complex in meiosis II. During meiosis II sister kinetochores are situated facing opposite spindle poles and bipolar attachment of the sister chromosomes to the spindle occurs.


meiotic spindle pole body organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the meiotic spindle pole body.


meiotic nuclear membrane disassembly

The cell cycle process in which the controlled breakdown of the nuclear membranes during meiotic cell division occurs.


spindle assembly involved in male meiosis I

The formation of the spindle during meiosis I of a meiotic cell cycle in males. An example of this is found in Drosophila melanogaster.


LinE complex assembly

The aggregation, arrangement and bonding together of a set of components during meiotic prophase to form a LinE complex, the protein complex that associates with chromatin to form linear elements in fission yeast. In S. pombe, the LinE complex contains four main structural components (Rec10, Rec25, Rec27, and Mug20) and other associated proteins.


metaphase/anaphase transition of meiosis II

The cell cycle process in which a cell progresses from metaphase to anaphase as part of meiosis II.


establishment of meiotic spindle orientation

Any process that set the alignment of meiotic spindle relative to other cellular structures.


meiotic attachment of telomeric heterochromatin to spindle pole body

The meiotic cell cycle process in which physical connections are formed between telomeric heterochromatin and the spindle pole body, facilitating bouquet formation.


meiotic telomere maintenance via semi-conservative replication

Any telomere maintenance via semi-conservative replication that is involved in meiotic cell cycle.


cell plate formation involved in plant-type cell wall biogenesis

The cell cycle process in which the cell plate is formed at the equator of the spindle in the dividing cells during early telophase. An example of this is found in Arabidopsis thaliana.


regulation of syncytial blastoderm mitotic cell cycle

A cell cycle process that modulates the rate or extent of the progression through the syncytial blastoderm mitotic cell cycle.


astral microtubule anchoring at mitotic spindle pole body

Any process in which an astral microtubule is maintained in a specific location in a cell by attachment to a mitotic spindle pole body. Microtubules attach to spindle pole bodies at the minus end.


centromere clustering at the mitotic interphase nuclear envelope

The process in which chromatin, or kinetochores are anchored to the nuclear envelope. This process involves the microtubule cytoskeleton, and nuclear tethering factors and is responsible for the Rabl-like configuration of chromosomes in the interphase nuclei.


contractile ring contraction

The process of an actomyosin ring getting smaller in diameter.


CMG complex assembly

The aggregation, arrangement and bonding together of a set of components to form the CMG complex, a protein complex that contains the GINS complex, Cdc45p, and the heterohexameric MCM complex, and that is involved in unwinding DNA during replication. The process begins when additional proteins (e.g. Cdc45 and Sld3) join the loaded, inactive double MCM hexamer at replication origins, and ends when Mcm10 triggers the separation of the Mcm2-7 double hexamers, forming two active CMG complexes.


mitotic cohesin ssDNA (lagging strand) loading

The ATP-dependent protein localization to chromatin by which a cohesin ring complex is topologically linked to ssDNA (lagging strand) which is already linked to a dsDNA (leading strand) molecule as part of the mitotic cell cycle.


actomyosin contractile ring contraction

The process of an actomyosin ring getting smaller in diameter, in the context of cytokinesis that takes place as part of a cell cycle.


bacterial-type DNA replication termination

Any DNA replication termination that is involved in bacterial-type DNA replication.


premeiotic DNA replication termination

Any DNA replication termination involved in meiotic cell cycle DNA replication.


actomyosin contractile ring assembly

The process of assembly of a ring composed of actin, myosin, and associated proteins that will function in cytokinesis.


meiosis I cytokinesis

A cell cycle process that results in the division of the cytoplasm of a cell after meiosis I, resulting in the separation of the original cell into two daughter cells.


spindle disassembly

The controlled breakdown of the spindle, the array of microtubules and associated molecules that serves to move duplicated chromosomes apart.


male meiosis chromosome separation

The process in which paired chromosomes are physically detached from each other during male meiosis.


DNA strand elongation involved in premeiotic DNA replication

Any DNA strand elongation involved in meiotic cell cycle DNA replication.


plant-type primary cell wall biogenesis

A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of cellulose and pectin-containing cell walls that form adjacent to the middle lamella following cell division and during cell expansion. An example of this is found in Arabidopsis thaliana.


mitotic cohesin dsDNA (leading strand) loading

The protein localization to chromatin by which a cohesin ring complex is topologically linked to dsDNA (leading strand) as part of the mitotic cell cycle.


cell cycle DNA replication initiation

Any DNA replication initiation that is involved in cell cycle DNA replication.


plant-type sporogenesis

The formation of plant spores derived from the products of meiosis. The spore gives rise to gametophytes.


mitotic contractile ring actin filament bundle assembly

Any actin filament bundle assembly that is involved in mitotic actomyosin contractile ring assembly.


male meiosis II

A cell cycle process comprising the steps by which a cell progresses through male meiosis II, the second meiotic division in the male germline.


spindle pole body duplication

Construction of a new spindle pole body.


meiosis I/meiosis II transition

The cell cycle process in which a cell progresses from meiosis I to meiosis II.


meiotic G2/MI DNA replication checkpoint signaling

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

A signal transduction process that controls the G2/M1 transition of the meiotic cell cycle and prevents the initiation of nuclear division until DNA replication is complete.


synthesis of RNA primer involved in premeiotic DNA replication

Any synthesis of RNA primer involved in meiotic cell cycle DNA replication.


cell cycle switching, mitotic to meiotic cell cycle

The process in which a cell switches cell cycle mode from mitotic to meiotic division.


mitotic sister chromatid cohesion, centromeric

The cell cycle process in which centromeres of sister chromatids are joined during mitosis.


mitotic pre-replicative complex assembly

Any pre-replicative complex assembly involved in mitotic cell cycle DNA replication.


mitotic cleavage furrow formation

Any cleavage furrow formation that is involved in mitotic cell cycle.


meiotic strand displacement involved in double-strand break repair via SDSA

Any meiotic strand displacement that is involved in double-strand break repair via synthesis-dependent strand annealing (SDSA).


microtubule bundle formation involved in horsetail-astral microtubule organization

Any microtubule bundle formation that is involved in horsetail-astral microtubule organization.


premeiotic DNA replication DNA ligation

Any DNA ligation involved in meiotic cell cycle DNA replication.


bacterial-type DNA replication DNA ligation

Any DNA ligation that is involved in bacterial-type DNA replication.


DNA strand elongation involved in mitotic DNA replication

Any DNA strand elongation involved in mitotic cell cycle DNA replication.


actomyosin contractile ring actin filament bundle assembly

A process of actin filament bundle formation that occurs in the context of assembling an actomyosin contractile ring during cytokinesis.


meiosis II cytokinesis

A cell cycle process that results in the division of the cytoplasm of a cell after meiosis II, resulting in the separation of the original cell into two daughter cells.


mitotic cleavage furrow ingression

Advancement of the mitotic cleavage furrow from the outside of the cell inward towards the center of the cell. The cleavage furrow acts as a 'purse string' which draws tight to separate daughter cells during mitotic cytokinesis and partition the cytoplasm between the two daughter cells. The furrow ingresses until a cytoplasmic bridge is formed.


cellular bud site selection

The specification of the site where a daughter cell will form, in organisms that reproduce by budding. An example of this process is found in Saccharomyces cerevisiae.


meiotic DNA recombinase assembly involved in reciprocal meiotic recombination

The aggregation, arrangement and bonding together of strand exchange proteins (recombinases) to form higher order oligomers on single-stranded DNA resulting in meiotic recombination. Meiotic recombination is the cell cycle process in which double strand breaks are formed and repaired through a double Holliday junction intermediate.


ascospore release from ascus

A developmental process that results in the discharge of ascospores from the ascus. Ascospore release may be active or passive.


attachment of telomeric heterochromatin to nuclear envelope

The process in which physical connections are formed between sub-telomeric heterochromatin and the nuclear envelope facilitating bouquet formation.


sister chromosome movement towards spindle pole involved in meiotic sister chromatid segregation

The directed movement of sister chromosomes from the center of the spindle towards the spindle poles, mediated by the shortening of microtubules attached to the chromosomes, during meiosis II.


meiotic strand invasion

The cell cycle process in which the nucleoprotein complex (composed of the broken single-strand DNA and the recombinase) searches and identifies a region of homology in intact duplex DNA. The broken single-strand DNA displaces the like strand and forms Watson-Crick base pairs with its complement, forming a duplex in which each strand is from one of the two recombining DNA molecules. This occurs during meiosis.


meiotic sister chromatid cohesion involved in meiosis I

The cell cycle process in which sister chromatids of a replicated chromosome are joined along the entire length of the chromosome during meiosis I.


actomyosin contractile ring disassembly

The disaggregation of an actomyosin contractile ring into its constituent components.


meiotic sister chromatid centromere separation

The cell cycle process in which the centromeres of sister chromatids are physically detached from each other during meiosis.


maintenance of mitotic sister chromatid cohesion, centromeric

The process in which the association between sister chromatids of a replicated chromosome along the length of the centromeric region is maintained as chromosomes condense, attach to the spindle in a bipolar orientation, and congress to the metaphase plate during a mitotic cell cycle.


astral microtubule depolymerization

The removal of tubulin heterodimers from one or both ends of an astral microtubule. An astral microtubule is any of the spindle microtubules that radiate in all directions from the spindle poles and are thought to contribute to the forces that separate the poles and position them in relation to the rest of the cell.