Blastocystis infectious disease

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


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

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

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


infectious colitis

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


spleen cancer

description: A malignant neoplasm involving the spleen


inflammatory bowel disease 13

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


secretory diarrhea

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


carcinoma of the ampulla of vater

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


adult hepatocellular carcinoma

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


name: metabolic dysfunction-associated steatotic liver disease

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


gallbladder carcinoma

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


Budd-Chiari syndrome

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


gastric non-hodgkin lymphoma

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


name: maturity-onset diabetes of the young type 6

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


name: chronic enteropathy associated with SLCO2A1 gene


functional colonic disease

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


rectal cloacogenic carcinoma

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


name: autosomal dominant hyperinsulinism due to Kir6.2 deficiency

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


extrahepatic bile duct cystadenoma

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


name: chronic atrial and intestinal dysrhythmia

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


name: umbilical cord ulceration-intestinal atresia syndrome

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


fulminant viral hepatitis

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


bile duct adenoma

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


epithelial tumor of the appendix

description: A epithelial neoplasm that involves the vermiform appendix.


DEND syndrome

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


small intestinal bacterial overgrowth

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


macrotrabecular hepatoblastoma

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


gallstones

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


colorectal squamous cell carcinoma

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


name: ampulla of vater adenosquamous carcinoma

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


rectosigmoid carcinoma

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


pediatric hepatocellular carcinoma

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


inflammatory bowel disease 24

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


hepatoblastoma

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


pancreatic adenosquamous carcinoma

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


name: Hirschsprung disease-hearing loss-polydactyly syndrome

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


hyperinsulinism due to INSR deficiency

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


sigmoid neoplasm

description: Tumors or cancer of the sigmoid colon.


caudal duplication

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


name: mixed fibrolamellar hepatocellular carcinoma

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


sublingual gland cancer

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


extrahepatic bile duct rhabdomyosarcoma

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


name: progressive familial intrahepatic cholestasis type 3

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


name: transient familial neonatal hyperbilirubinemia

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


name: congenital diarrhea 7 with exudative enteropathy

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


intestinal disorder

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


name: congenital diarrhea 5 with tufting enteropathy

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


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

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


name: diffuse cavernous hemangioma of the rectum


tumor of duodenum

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


lip carcinoma in situ

description: A in situ carcinoma that involves the lip.


name: congenital enteropathy due to enteropeptidase deficiency

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


infantile liver failure syndrome 1

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


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

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


small intestinal sarcoma

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


solitary rectal ulcer syndrome

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


name: pancreatic non-invasive mucinous cystadenocarcinoma

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


name: low phospholipid associated cholelithiasis

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


name: gastric mucosa-associated lymphoid tissue lymphoma

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


mucocele of appendix

description: Accumulation of mucus within the appendix.


small intestinal tubular adenoma

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


vallecula cancer

description: A cancer involving a epiglottic vallecula.


benign neoplasm of rectum

description: A benign neoplasm that involves the rectum.


diffuse gastric cancer

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


name: pancreatic small cell neuroendocrine carcinoma

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


rectal signet ring cell adenocarcinoma

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


liver neuroendocrine carcinoma

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


Satoyoshi syndrome

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


lip cancer

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


Caroli disease

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


pancolitis

description: Ulcerative colitis that involves the entire colon.


gastroduodenal Crohn disease

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


pancreatic mucinous-cystic neoplasm

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


endometriosis of intestine

description: Endometriosis that affects the intesines.


digestive system melanoma

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


hepatopulmonary syndrome

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


rectal hyperplastic polyp

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


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

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


neoplasm of oropharynx

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


name: ampulla of vater mucinous adenocarcinoma

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


salivary gland mucoepidermoid carcinoma

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


liver cavernous hemangioma

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


description: An intrahepatic cholangiocarcinoma that produces abundant mucin.


4-hydroxyphenylacetic aciduria

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


small intestine disorder

description: A disease that involves the small intestine.


anal canal cancer

description: A malignant neoplasm involving the anal canal


autoimmune cholangitis

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


squamous cell carcinoma of colon

description: A squamous cell carcinoma that involves the colon.


name: pancreatic vasoactive intestinal peptide producing tumor

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


mandibular cancer

description: A malignant neoplasm involving the mandible


neurofibroma of gallbladder

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


name: pancreatic large cell neuroendocrine carcinoma

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


rectal sarcomatoid carcinoma

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


duodenal neuroendocrine neoplasm

description: A neuroendocrine neoplasm that involves the duodenum.


familial colorectal cancer

description: 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

description: 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.


name: gallbladder papillary neoplasm with an associated invasive carcinoma

description: 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

description: A carcinoma that arises from epithelial cells of the vermiform appendix


name: salivary gland carcinoma ex pleomorphic adenoma

description: 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

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


stomach diverticulosis

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


Arroyo Garcia Cimadevilla syndrome

description: 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.


name: small intestinal vasoactive intestinal peptide producing tumor

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


name: splenic manifestation of prolymphocytic leukemia

description: A prolymphocytic leukemia that involves the spleen.


Aagenaes syndrome

description: 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

description: 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.


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 3


name: intraductal tubulopapillary neoplasm of pancreas


juvenile polyposis syndrome

description: 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

description: A squamous cell carcinoma arising from the perianal skin.


choledocholithiasis

description: Presence or formation of gallstones in the common bile duct.


thoraco-abdominal enteric duplication

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


gallbladder adenocarcinoma

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


name: diabetes mellitus, noninsulin-dependent, 2


anal canal carcinoma in situ

description: A carcinoma in situ involving a anal canal.


colon carcinoma in situ

description: A in situ carcinoma that involves the colon.


salivary gland squamous cell carcinoma

description: 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.


name: aplasia cutis congenita-intestinal lymphangiectasia syndrome

description: 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

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


colorectal adenosquamous carcinoma

description: 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

description: 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

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


hepatitis C induced liver cirrhosis

description: Liver injury resulting from hepatitis C infection.


Meckel diverticulum neoplasm

description: A neoplasm involving a Meckel's diverticulum.


gallbladder lymphoma

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


diverticulitis of colon

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


name: colorectal cancer, hereditary nonpolyposis, type 7

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


seronegative autoimmune hepatitis

description: 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

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


name: MYO5B-related progressive familial intrahepatic cholestasis


pancreatic cystadenoma

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


name: autosomal dominant polycystic liver disease

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


name: congenital sucrase-isomaltase deficiency without starch intolerance


Peutz-Jeghers polyp of the stomach

description: 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.


name: pancreatic signet ring cell adenocarcinoma

description: 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

description: A angiodysplasia that involves the stomach.


intrahepatic biliary papillomatosis

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


esophagus liposarcoma

description: 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

description: 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.


name: combined hepatocellular carcinoma and cholangiocarcinoma

description: 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.


name: congenital short bowel syndrome, autosomal recessive


cecum carcinoma

description: A carcinoma that arises from epithelial cells of the caecum


liver lipoma

description: A rare benign adipose tissue neoplasm of the liver.


congenital esophageal diverticulum

description: 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.


name: bile duct mucinous cystic neoplasm with an associated invasive carcinoma

description: 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

description: 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.


name: diabetes mellitus, noninsulin-dependent, 1


Barrett adenocarcinoma

description: 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

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


trichohepatoenteric syndrome 2

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


intestinal lymphangiectasia

description: 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

description: 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

description: 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).


name: diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency


undifferentiated carcinoma of esophagus

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


anal gland adenocarcinoma

description: 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

description: A benign adipose tissue neoplasm of the rectum.


Cronkhite-Canada syndrome

description: 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

description: A benign adipose tissue neoplasm involving the gallbladder wall.


colon neuroendocrine neoplasm

description: 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).


name: food protein-induced allergic proctocolitis

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


description: 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

description: 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

description: 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

description: 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

description: A epithelial neoplasm that involves the anal canal.


pancreatic serous cystadenoma

description: 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.


name: extrahepatic bile duct mucoepidermoid carcinoma

description: A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts.


Meckel diverticulitis

description: Inflammation of a congenital diverticulum of the lower intestine.


Peutz-Jeghers polyp

description: 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

description: A carcinoma that involves the hard palate.


perianal Crohn disease

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


name: visceral leiomyopathy, African degenerative


inflammatory bowel disease 3

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


name: POLD1-related polyposis and colorectal cancer syndrome

description: 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

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


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


name: congenital sucrase-isomaltase deficiency with starch and lactose intolerance


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

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


ALPI-related inflammatory bowel disease

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


esophagus verrucous carcinoma

description: 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)


name: neonatal diabetes mellitus with congenital hypothyroidism

description: 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

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


name: neonatal inflammatory skin and bowel disease

description: 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

description: Metaplastic changes in the lining of the upper digestive tract.


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


malignant pancreatic neoplasm

description: A malignant neoplasm involving the pancreas.


hyperinsulinism-hyperammonemia syndrome

description: 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

description: 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.


extrahepatic bile duct adenocarcinoma

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


polyp of colon

description: A polyp that involves the colon.


name: gallbladder biliary intraepithelial neoplasia

description: 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

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


name: permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

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


name: squamous cell carcinoma of liver and intrahepatic biliary tract

description: 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

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


somatostatinoma

description: 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.


name: mixed ductal-endocrine carcinoma of pancreas

description: 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

description: 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.


name: porphyria due to ALA dehydratase deficiency

description: 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

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


transverse colon cancer

description: A malignant neoplasm involving the transverse colon.


colorectal lymphoma

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


upper gum cancer

description: A cancer involving a gingiva of upper jaw.


signet ring cell gastric adenocarcinoma

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


primary desmosis coli

description: 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

description: 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

description: 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.


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

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


squamous cell carcinoma of pancreas

description: A squamous cell carcinoma that involves the pancreas.


colon mucinous adenocarcinoma

description: 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.


name: proton-pump inhibitor-responsive esophageal eosinophilia

description: 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.


name: diabetes mellitus, transient neonatal, 3

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


name: hereditary diffuse gastric adenocarcinoma

description: 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

description: A Burkitt lymphoma that arises from the small intestine.


idiopathic achalasia

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


name: gastric gastrin-producing neuroendocrine tumor

description: 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

description: A cancer involving a Meckel's diverticulum.


name: chronic diarrhea due to glucoamylase deficiency

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


gallbladder squamous cell carcinoma

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


name: biliary atresia intrahepatic syndromic form


esophageal varices without bleeding

description: Evidence of esophageal varices without bleeding.


name: pancreatic intraductal papillary-mucinous carcinoma

description: 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

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


rectum mucinous adenocarcinoma

description: 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.


name: benign recurrent intrahepatic cholestasis type 1

description: 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.


Muir-Torre syndrome

description: 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

description: 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

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


pancreatic exocrine neoplasm

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


name: hereditary North American Indian childhood cirrhosis

description: 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.


rectal tubular adenoma

description: 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

description: A malignant teratoma that arises from the stomach.


appendix adenoma

description: 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

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


idiopathic copper-associated cirrhosis

description: 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

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


inflammatory bowel disease 2

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


duodenum cancer

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


description: 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

description: 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.


jejunal neuroendocrine tumor G1

description: 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

description: A squamous cell carcinoma that involves the lip.


ileocolitis

description: 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

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


liver adenosquamous carcinoma

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


duodenogastric reflux

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


laryngotracheoesophageal cleft type 4

description: 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

description: A lipoma that involves the stomach.


name: maturity-onset diabetes of the young type 4

description: 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

description: 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).


name: Alagille syndrome due to 20p12 microdeletion


appendix neuroendocrine neoplasm

description: 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

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


hepatoerythropoietic porphyria

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


gastric fundus carcinoma

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


intestinal atresia

description: 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

description: 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

description: A benign or malignant neoplasm involving the appendix.


Waardenburg syndrome type 4B

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


liver angiosarcoma

description: A malignant vascular neoplasm arising from the liver.


perinatal necrotizing enterocolitis

description: 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

description: 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

description: 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

description: A Kaposi sarcoma that arises from the colon or rectum.


pancreatic endocrine carcinoma

description: 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

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


name: gastric adenocarcinoma and proximal polyposis of the stomach

description: A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: undifferentiated carcinoma of liver and intrahepatic biliary tract

description: 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 characteristics. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, high metastatic potential and a rapid clinical course are typically associated.


name: small intestinal intraepithelial neoplasia

description: 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

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


chemical colitis

description: 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

description: 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

description: An intrahepatic cholangiocarcinoma that arises from the canals of Hering.


gastric liposarcoma

description: A malignant adipose tissue neoplasm of the stomach.


anal canal carcinoma

description: A carcinoma that arises from epithelial cells of the anal canal


insulin-resistance syndrome type B

description: 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

description: 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.


name: cutaneous photosensitivity-lethal colitis syndrome

description: 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

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


bacterial gastritis

description: Gastritis resulting from bacteria.


benign neoplasm of appendix

description: A benign neoplasm that involves the vermiform appendix.


anus leiomyosarcoma

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


liver adenomatosis

description: 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.


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 5


Epstein-Barr virus hepatitis

description: 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.


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

description: 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.


name: benign recurrent intrahepatic cholestasis

description: 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

description: Cholecystitis that is characterized by nodules containing lipid.


opioid-induced constipation

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


X-linked erythropoietic protoporphyria

description: X-linked form of erythropoietic protoporphyria.


jejunal adenocarcinoma

description: A adenocarcinoma that involves the jejunum.


VIPoma

description: 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

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


name: Lugano Classification Stage IV Adult Non-Hodgkin Lymphoma AJCC v8

description: 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.)


name: two pore channel protein 1 isoform h1 (human)

description: A two pore channel protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9ULQ1-1.


name: signal transducer and activator of transcription 5A isoform h2 (human)

description: A signal transducer and activator of transcription 5A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42229-2.


name: signal transducer and activator of transcription 5a

description: A signal transducer and transcription activator STAT that is a translation product of the human STAT5A gene or a 1:1 ortholog thereof.


name: signal transducer and activator of transcription 5A phosphorylated 1 (human)

description: A signal transducer and activator of transcription 5A (human) that has been phosphorylated on the residue at the position equivalent to Tyr-694 of the amino acid sequence represented by UniProtKB:P42229-1. Example: UniProtKB:P42229-1, Tyr-694, MOD:00048.


name: signal transducer and activator of transcription 5A methylated 1 (human)

description: A signal transducer and activator of transcription 5A (human) that has been methylated on the residue at the position equivalent to Cys-101 of the amino acid sequence represented by UniProtKB:P42229-1. Example: UniProtKB:P42229-1, Cys-101, MOD:00660.


name: signal transducer and activator of transcription 5A isoform h1 (human)

description: A signal transducer and activator of transcription 5A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42229-1.


Cryogenic Burn

description: Local tissue damage due to exposure to extreme cold.


Supratentorial Gliosarcoma

description: A gliosarcoma arising from the supratentorial region.


Cerebral Glioblastoma

description: A glioblastoma that occurs in the cerebrum.


Heart Rupture, Post-Infarction

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


name: RAF proto-oncogene serine/threonine-protein kinase sequence variant N262L phosphorylated 1 (human)

description: A RAF proto-oncogene serine/threonine-protein kinase (human) that has a Leu residue at the position equivalent to Asn-262 of the amino acid sequence represented by UniProtKB:P04049-1 and that has been phosphorylated on the residue at the position equivalent to Ser-621. Example: UniProtKB:P04049-1, Asn-262, CHEBI:30006|Ser-621, MOD:00046.


benign granular cell tumor

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


cardiac granular cell neoplasm

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


name: benign peripheral nerve granular cell tumor

description: A benign granular cell tumor that involves the nerve.


Multiple hamartoma of lung

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


name: vitamin K-dependent protein C O-glycosylated 2 (human)

description: A vitamin K-dependent protein C (human) that has been O-glycosylated at the residue equivalent to Thr-19 of the amino acid sequence represented by UniProtKB:P04070-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04070-1, Thr-19, MOD:00005~GNO:G43417UB.


Increased CSF alanine concentration

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

description: Abnormally increased levels of alanine in cerebrospinal fluid.


Glutathionuria

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


name: sodium channel subunit beta-3, signal peptide removed form (human)

description: A sodium channel subunit beta-3 (human) that has had the signal peptide removed. UniProtKB:Q9NY72, 23-215.


name: Increased level of galactitol in red blood cells

description: An increase in the level of galactitol in the red blood cells.


dysgerminoma of ovary

description: A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage.


pediatric ovarian dysgerminoma

description: A dysgerminoma that arises from the ovary and occurs in children.


name: proteasome subunit beta type-5 isoform h3 (human)

description: A proteasome subunit beta type-5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P28074-3.


name: tyrosine-protein kinase JAK3 phosphorylated 2 (human)

description: A tyrosine-protein kinase JAK3 (human) that has been phosphorylated on the residues at the positions equivalent to Tyr-904 and Tyr-939 of the amino acid sequence represented by UniProtKB:P52333-1. Example: UniProtKB:P52333-1, Tyr-904/Tyr-939, MOD:00048.


name: phosphatidylethanolamine-binding protein 1 isoform 1 (human)

description: A phosphatidylethanolamine-binding protein 1 isoform 1 that is encoded in the genome of human.


Low serum calcitriol

description: A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.


name: Decreased circulating calcifediol concentration

description: A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.


name: Infant-Type Hemispheric Glioma, ROS1-Altered

description: A high-grade cellular astrocytoma that arises in the cerebral hemisphere and occurs in early childhood. It is characterized by receptor tyrosine kinase fusions in the ROS1 gene.


Dermal flame figures

description: Flame-figures are composed of a central part consisting of collagen fibers and eosinophilic granules, surrounded by a histiocytic and eosinophilic infiltrate. Subsequently, eosinophils tend to disappear and are replaced by phagocytic granulomas, consisting of histiocytes and sometimes giant cells, around the flame figures.


name: Grade 5 Intraoperative Ear Injury, CTCAE

description: Death


Intraoperative Ear Injury, CTCAE

description: A finding of damage to the ear during a surgical procedure.


name: Grade 2 Intraoperative Ear Injury, CTCAE

description: Partial resection of injured organ/structure indicated


name: Grade 3 Intraoperative Ear Injury, CTCAE

description: Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL (e.g., impaired hearing; impaired balance)


name: Grade 4 Intraoperative Ear Injury, CTCAE

description: Life-threatening consequences; urgent intervention indicated


name: Grade 1 Intraoperative Ear Injury, CTCAE

description: Primary repair of injured organ/structure indicated


name: FSH-Producing Pituitary Neuroendocrine Tumor

description: A pituitary neuroendocrine tumor that produces follicle-stimulating hormone (FSH).


Anterior Pituitary Gland Neoplasm

description: A neoplasm arising from the anterior lobe of the pituitary gland. The vast majority are pituitary neuroendocrine tumors (formerly pituitary adenomas).


name: Immature PIT1 Lineage Pituitary Neuroendocrine Tumor

description: An immature pituitary neuroendocrine tumor composed of PIT1-lineage adenohypophyseal cells with cytologic atypia and limited differentiation towards thyrotroph, somatotroph, and/or lactotroph cells. (WHO)


name: Pituitary Neuroendocrine Tumor without Distinct Lineage Differentiation

description: A pituitary neuroendocrine tumor that belongs to more than one adenohypophysial cell lineage or does not show evidence of adenohypophysial hormonal immunoreactivity and specific adenohypophysial cell derivation.


name: Locally Advanced Pituitary Neuroendocrine Tumor

description: Pituitary neuroendocrine tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Somatotroph-Lactotroph Pituitary Neuroendocrine Tumor

description: A pituitary neuroendocrine tumor that produces both growth hormone and prolactin.


name: Pituitary Neuroendocrine Tumor of PIT1-Lineage

description: A pituitary neuroendocrine tumor arising from PIT1-lineage adenohypophysial cells.


pituitary gland adenoma

description: A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.


name: Densely Granulated Corticotroph Pituitary Neuroendocrine Tumor

description: A corticotroph pituitary neuroendocrine tumor composed of basophilic PAS-positive cells that are diffusely and strongly positive for ACTH, consistent with the abundance of secretory granules seen at the ultrastructural level. (WHO)


name: Pituitary Neuroendocrine Tumor of SF1-Lineage

description: A pituitary neuroendocrine tumor arising from SF1-lineage adenohypophysial cells.


name: Pituitary Neuroendocrine Tumor, Not Otherwise Specified

description: A pituitary neuroendocrine tumor in which further characterization regarding subtyping is not available.


Crooke Cell Tumor

description: A corticotroph pituitary tumor composed of cells with Crooke hyaline change. Ring-like cytokeratin expression is typical of these neoplasms. ACTH expression is dislocated to the cell periphery and juxtanuclear region. Ultrastructurally, intermediate filaments are arranged in a ring-like pattern. (WHO)


name: Mammosomatotroph Pituitary Neuroendocrine Tumor

description: A pituitary neuroendocrine tumor composed of acidophilic cells that produce both growth hormone and prolactin. Immunohistochemical studies reveal the presence of these two hormones localized in the same cell.


name: Null Cell Pituitary Neuroendocrine Tumor

description: A non-functioning pituitary neuroendocrine tumor without hormonal immunoreactivity or evidence of specific adenohypophyseal cell derivation.


name: LH-Producing Pituitary Neuroendocrine Tumor

description: A pituitary neuroendocrine tumor that produces luteinizing hormone (LH).


non-functioning pituitary adenoma

description: A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome.


Pituitary macroadenoma

description: A pituitary gland adenoma that is larger than 10mm.


name: growth hormone-producing pituitary gland adenoma

description: An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.


name: Plurimorphous Plurihormonal Pituitary Neuroendocrine Tumor

description: A plurihormonal pituitary neuroendocrine tumor consisting of two or more different cell lineages. (WHO)


name: Non-Functioning Densely Granulated Corticotroph Pituitary Neuroendocrine Tumor

description: A densely granulated corticotroph pituitary neuroendocrine tumor not associated with a hormonal syndrome.


name: ACTH-producing pituitary gland carcinoma

description: A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease.


name: Non-Functioning Pituitary Neuroendocrine Tumor/Macroadenoma

description: A pituitary neuroendocrine tumor/macroadenoma not associated with a hormonal syndrome.


pituitary blastoma

description: A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations.


name: mixed somatotroph-lactotroph pituitary gland adenoma

description: An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry.


name: Functioning Pituitary Neuroendocrine Tumor/Macroadenoma

description: A pituitary neuroendocrine tumor/macroadenoma associated with a hormonal syndrome.


name: Functioning Pituitary Neuroendocrine Tumor/Microadenoma

description: A pituitary neuroendocrine tumor/microadenoma associated with a hormonal syndrome.


name: Recurrent Anterior Pituitary Gland Neoplasm

description: The reemergence of a pituitary gland neoplasm after a period of remission.


pituitary adenocarcinoma

description: A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly.


name: Double Pituitary Neuroendocrine Tumors of Distinct Lineages

description: Pituitary neuroendocrine tumors composed of adenohypopheseal cells of two lineages or a null cell tumor in combination with a lineage-specific pituitary neuroendocrine tumor in the same gland.


name: Non-Functioning Corticotroph Pituitary Neuroendocrine Tumor

description: Corticotroph pituitary neuroendocrine tumor not associated with a hormonal syndrome.


name: prolactin-producing pituitary gland carcinoma

description: A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin.


name: growth hormone-producing pituitary gland carcinoma

description: A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly.


name: Monomorphous Plurihormonal Pituitary Neuroendocrine Tumor

description: A plurihormonal pituitary neuroendocrine tumor consisting of a single cell type producing two (or rarely more) hormones. (WHO)


Ectopic Pituitary Neuroendocrine Tumor

description: A pituitary neuroendocrine tumor that does not involve the sella turcica.


name: Acidophil Stem Cell Pituitary Neuroendocrine Tumor

description: An infrequent pituitary neuroendocrine tumor composed of cells showing immunoreactivity for prolactin and less often growth hormone. Electron microscopic studies reveal giant mitochondria, a finding not present in any other type of pituitary gland adenomas.


ACTH-producing pituitary gland adenoma

description: An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion.


name: Non-Functioning Pituitary Neuroendocrine Tumor/Microadenoma

description: A pituitary neuroendocrine tumor/microadenoma not associated with a hormonal syndrome.


name: Pituitary Neuroendocrine Tumor of TPIT-Lineage

description: A pituitary neuroendocrine tumor arising from TPIT-lineage adenohypophysial cells.


name: Sparsely Granulated Somatotroph Pituitary Neuroendocrine Tumor

description: A growth hormone-producing pituitary neuroendocrine tumor composed of small, round cells containing fibrous bodies and scarce, small secretory granules.


name: Densely Granulated Lactotroph Pituitary Neuroendocrine Tumor

description: A rare prolactin-producing pituitary neuroendocrine tumor composed of acidophilic cells with many large secretory granules.  The endoplasmic reticulum is not as abundant as in the sparsely granulated subtype.


name: Sparsely Granulated Lactotroph Pituitary Neuroendocrine Tumor

description: A prolactin-producing pituitary neuroendocrine tumor composed of relatively large, chromophobic or slightly acidophilic cells with well developed, abundant endoplasmic reticulum, and many immature secretory granules.  Mature secretory granules are sparse.


name: Metastatic Unresectable Pituitary Neuroendocrine Tumor

description: Metastatic pituitary neuroendocrine tumor that is not amenable to surgical resection.


name: Plurihormonal Pituitary Neuroendocrine Tumor

description: A pituitary neuroendocrine tumor that expresses adenohypophyseal hormones and belongs to more than one adenohypophysial cell lineage.


name: Mature Plurihormonal PIT1 Lineage Pituitary Neuroendocrine Tumor

description: A well-differentiated pituitary neuroendocrine tumor composed of PIT1-lineage adenohypophyseal cells with acidophilic cytoplasm, extensive immunoreactivity for growth hormone and variable immunoreactivity for TSH, prolactin, and alpha-subunit. (WHO)


name: prolactin-producing pituitary gland adenoma

description: Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.


name: Sparsely Granulated Corticotroph Pituitary Neuroendocrine Tumor

description: A corticotroph pituitary neuroendocrine tumor composed of faintly basophilic or chromophobic PAS-positive cells with weak or patchy positivity for ACTH, consistent with the scant, small secretory granules seen ultrastructurally. (WHO)


Atypical Pituitary Neuroendocrine Tumor

description: A usually aggressive and invasive pituitary neuroendocrine tumor characterized by excessive p53 immunoreactivity, increased mitotic activity, and MIB-1 proliferative index greater than 3%.


name: Densely Granulated Somatotroph Pituitary Neuroendocrine Tumor

description: A growth hormone-producing pituitary neuroendocrine tumor composed of medium-sized acidophilic cells with granular cytoplasm and abundant secretory granules.


description: A pituitary neuroendocrine tumor with a diameter equal or less than 10 mm.


name: Multiple Synchronous Pituitary Neuroendocrine Tumors of Distinct Lineages

description: Multiple pituitary neuroendocrine tumors composed of adenohypopheseal cells of two or more lineages or a null cell tumor in combination with a lineage-specific pituitary neuroendocrine tumor in the same gland.


name: Non-Functioning Sparsely Granulated Corticotroph Pituitary Neuroendocrine Tumor

description: A sparsely granulated corticotroph pituitary neuroendocrine tumor not associated with a hormonal syndrome.


name: Nasopharyngeal Pituitary Neuroendocrine Tumor

description: An ectopic pituitary neuroendocrine tumor that arises from the nasopharynx.


name: Mixed Gangliocytoma-Pituitary Neuroendocrine Tumor

description: A pituitary neoplasm composed of mature ganglionic cells admixed with pituitary neoplastic neuroendocrine cells.


name: unexplained long-lasting fever/inflammatory syndrome


name: Fractured proximal epiphysis of first metacarpal bone

description: A partial or complete breakage of the proximal epiphysis of first metacarpal bone.


Advanced Extramammary Paget Disease

description: Extramammary Paget disease that has spread extensively to other anatomic sites or is no longer responding to treatment.


extramammary Paget disease

description: A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.


vulval Paget disease

description: An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei.


scrotum Paget disease

description: A mammary Paget's disease that involves the scrotum.


name: Recurrent Paget Disease of the Anal Canal

description: The reemergence of Paget disease of the anal canal after a period of remission.


Recurrent Extramammary Paget Disease

description: The reemergence of extramammary Paget disease after a period of remission.


Metastatic Extramammary Paget Disease

description: Extramammary Paget disease that has spread from the original site of growth to other anatomic sites.


Paget disease of the penis

description: A premalignant condition morphologically characterized by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003


Refractory Extramammary Paget Disease

description: Extramammary Paget disease that is resistant to treatment.


name: tyrosine-protein kinase SYK cysteinylated 1 (human)

description: A tyrosine-protein kinase SYK (human) that has been cysteinylated on the residue at the position equivalent to Cys-608 of the amino acid sequence represented by UniProtKB:P43405-1. Example: UniProtKB:P43405-1, Cys-608, MOD:00765.


name: tyrosine-protein kinase SYK isoform Short (human)

description: A tyrosine-protein kinase SYK (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43405-2.


name: tyrosine-protein kinase SYK deaminated 1 (human)

description: A tyrosine-protein kinase SYK (human) that has been deaminated on the residue at the position equivalent to Asn-499 of the amino acid sequence represented by UniProtKB:P43405-1. Example: UniProtKB:P43405-1, Asn-499, MOD:00684.


name: tyrosine-protein kinase SYK phosphotyrosine form (human)

description: A tyrosine-protein kinase SYK (human) that includes at least one phosphorylated tyrosine. UniProtKB:P43405, MOD:00048.


name: tyrosine-protein kinase SYK phosphorylated 2 (human)

description: A tyrosine-protein kinase SYK phosphorylated 2 in human. UniProtKB:P43405, Tyr-348, MOD:00048.


name: tyrosine-protein kinase SYK phosphorylated 3 (human)

description: A tyrosine-protein kinase SYK (human) that has been post-translationally modified to include phosphotyrosine at positions 131, 323, 348, 352, 525 and 526 of the amino acid sequence represented by UniProtKB:P43405. UniProtKB:P43405, Tyr-131/Tyr-323/Tyr-348/Tyr-352/Tyr-525/Tyr-526, MOD:00048.


name: mitogen-activated protein kinase kinase kinase 20 methylated 2 (human)

description: A mitogen-activated protein kinase kinase kinase 20 (human) that has been methylated on the residue at the position equivalent to Arg-670 of the amino acid sequence represented by UniProtKB:Q9NYL2-1. Example: UniProtKB:Q9NYL2-1, Arg-670, MOD:00658.


name: Intracellular accumulation of collagen VII

description: Collagen VII is the major molecular constituent of anchoring fibrils in the skin. Collagen VII is synthesized as three identical pro-alpha1(VII) polypeptide chains, which are hydroxylated and glycosylated in a coordinated manner and then fold into triple-helical procollagen VII in the endoplasmic reticulum (ER). Mature collagen VII undergoes a multistep fibril polymerization process to form the anchoring fibrils. Mutant pro-alpha1(VII) polypeptide chains or procollagen VII molecules do not pass the ER quality control and are retained in the ER or designated for ubiquitin-proteasome degradation resulting in reduced amounts of collagen VII in the skin.


name: myeloperoxidase N-glycosylated 8 (human)

description: A myeloperoxidase (human) that has been N-glycosylated at the residue equivalent to Asn-483 of the amino acid sequence represented by UniProtKB:P05164-1, in which the glycan structure is represented by GlyTouCan:G82348BZ. Example: UniProtKB:P05164-1, Asn-483, MOD:00160~GNO:G82348BZ.


Stage II Renal Pelvis Cancer AJCC v7

description: Stage II includes: T2, N0, M0.  T2: Tumor invades muscularis.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


name: Stage II Renal Pelvis and Ureter Cancer AJCC v7

description: Stage II includes: T2, N0, M0.  T2: Tumor invades the muscularis.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Duane retraction syndrome 3 with or without deafness

description: Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.


carcinoma in situ of ureter

description: A in situ carcinoma that involves the ureter.


epithelial neoplasm

description: A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.


maxillary arteriovenous malformation

description: Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.


thymoma

description: A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course.


scrotal carcinoma

description: A carcinoma that arises from epithelial cells of the scrotum.