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

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

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


duodenal neuroendocrine neoplasm

description: A neuroendocrine neoplasm that involves the duodenum.


stomach carcinoma in situ

description: A in situ carcinoma that involves the stomach.


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.


intestinal volvulus

description: Twisting of a loop of bowel that results in intestinal obstruction.


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


acute diarrhea

description: Acute form of diarrhea.


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.


name: displacement of cardia through esophageal hiatus


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.


hepatic veno-occlusive disease

description: Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.


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.


lactose intolerance

description: Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine.  Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose.


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.


name: MYO5B-related progressive familial intrahepatic cholestasis


glucagonoma

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


pancreatic cystadenoma

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.


pancreatic adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the pancreas


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.


acute cholangitis

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


alcoholic fatty liver disease

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


congenital esophageal diverticulum

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


anal squamous cell carcinoma

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


undifferentiated carcinoma of esophagus

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


pancreatic ductal adenocarcinoma

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


anal gland adenocarcinoma

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.


toxic megacolon

description: An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis.


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.


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.


gastrointestinal stromal tumor

description: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.


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.


neoplasm of esophagus

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


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


Whipple disease

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


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.


anal carcinoma

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


extrahepatic bile duct adenocarcinoma

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


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.


pouchitis

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


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.


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.


intrahepatic cholestasis

description: A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver.


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.


esophageal cancer

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


obstructive jaundice

description: A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system.


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.


ileus

description: Decrease in peristalsis in the absence of a mechanical bowel obstruction.


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.


tongue squamous cell carcinoma

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


idiopathic achalasia

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


glucose intolerance

description: The inability to regulate blood glucose levels resulting in hyperglycemia.


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.


fungal esophagitis

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


rectum mucinous adenocarcinoma

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.


hepatic porphyria

description: A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.


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.


liver cancer

description: An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma.


pancreatic exocrine neoplasm

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


Clostridium difficile colitis

description: A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated.


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.


colon adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the colon


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.


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.


hepatitis E virus infection

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


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.


Zollinger-Ellison syndrome

description: Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.


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.


biliary dyskinesia

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


small intestine cancer

description: A primary or metastatic malignant neoplasm involving the small intestine.


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.


hepatobiliary disorder

description: A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma.


acute intermittent porphyria

description: Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.


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.


stomach disorder

description: A disease involving the stomach.


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.


protoporphyria, erythropoietic, 1

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


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).


tongue cancer

description: A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas.


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.)


cellular response to insulin stimulus

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

description: Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.


response to insulin

description: Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.


Supratentorial Gliosarcoma

description: A gliosarcoma arising from the supratentorial region.


Cerebral Glioblastoma

description: A glioblastoma that occurs in the cerebrum.


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.


Increased CSF alanine concentration

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

description: Abnormally increased levels of alanine in cerebrospinal fluid.


chorioretinitis

description: Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision.


Glutathionuria

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


name: mitotic intra-S DNA damage checkpoint signaling

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

description: A mitotic cell cycle checkpoint that slows DNA synthesis in response to DNA damage by the prevention of new origin firing and the stabilization of slow replication fork progression.


name: positive regulation of mitotic sister chromatid biorientation

description: Any process that activates or increases the frequency, rate or extent of mitotic sister chromatid biorientation, the mitotic cell cycle process in which sister chromatids establish stable, end-on attachments to the plus ends of microtubules emanating from opposite spindle poles, oriented such that separation can proceed.


name: meiotic mismatch repair involved in reciprocal meiotic recombination

description: A system for the identification and correction of base-base mismatches, small insertion-deletion loops, and regions of heterology that are present in duplex DNA formed with strands from two recombining molecules resulting in meiotic recombination. Meiotic recombination is the cell cycle process in which double strand breaks are formed and repaired through a double Holliday junction intermediate.


name: double-strand break repair involved in meiotic recombination

description: The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix that contributes to reciprocal meiotic recombination.


name: meiotic mismatch repair involved in meiotic gene conversion

description: A system for the identification and correction of base-base mismatches, small insertion-deletion loops, and regions of heterology that are present in duplex DNA formed with strands from two recombining molecules resulting in meiotic gene conversion. Meiotic gene conversion is the cell cycle process in which genetic information is transferred from one helix to another.


name: response to meiotic recombination checkpoint signaling

description: A process that occurs in response to signals generated as a result of meiotic recombination checkpoint signaling.


name: DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest

description: A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage and resulting in the stopping or reduction in rate of the cell cycle.


meiotic mismatch repair

description: A system for the identification and correction of base-base mismatches, small insertion-deletion loops, and regions of heterology that are present in duplex DNA formed with strands from two recombining molecules. Correction of the mismatch can result in non-Mendelian segregation of alleles following meiosis.


mitotic DNA damage checkpoint signaling

description: A signal transduction process involved in mitotic DNA damage checkpoint.


name: mitotic G2 DNA damage checkpoint signaling

description: A mitotic cell cycle checkpoint that detects and negatively regulates progression through the G2/M transition of the cell cycle in response to DNA damage.


name: mitotic G1 DNA damage checkpoint signaling

description: A signal transduction process that contributes to a mitotic cell cycle G1/S transition DNA damage checkpoint.


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.


vitamin D deficiency

description: Abnormally low level of 25-hydroxyvitamin D in the blood.


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: 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.


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


Rectocele

description: A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy.


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: 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.


Nonproductive cough

description: A cough that does not produce phlegm or mucus.


Productive cough

description: A cough that produces phlegm or mucus.


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.


ovarian endometrioid adenocarcinoma

description: An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma.


ureter inverted papilloma

description: A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.


apocrine adenocarcinoma

description: A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course.


breast mucinous carcinoma

description: An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis.


scirrhous breast carcinoma

description: An infiltrating ductal breast carcinoma associated with stromal fibrosis.


renal pelvis urothelial papilloma

description: A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.


kidney carcinoma in situ

description: A carcinoma in situ involving a kidney.


adenoid cystic breast carcinoma

description: An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent.


transitional cell carcinoma

description: A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries.


stage II endometrioid carcinoma

description: Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus.


ovarian adenocarcinoma

description: An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma.


nasal cavity carcinoma in situ

description: A in situ carcinoma that involves the nasal cavity.


thyroid gland fetal adenoma

description: A thyroid gland adenoma composed of microfollicular structures.


ureter carcinoma

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


ovarian clear cell cancer

description: An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells.


skin cystic basal cell carcinoma

description: A basal cell carcinoma of the skin that is characterized by cyst formation.


vulvar clear cell hidradenocarcinoma

description: A vulvar sweat gland carcinoma characterized by the presence of clear cells.


stage IVb bladder cancer

description: Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis.


vulvar squamous cell carcinoma

description: An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)


mucinous adenocarcinoma

description: An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.


corneal intraepithelial neoplasm

description: A squamous cell intraepithelial neoplasia that involves the cornea.


pituitary gigantism

description: The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.


name: moderately-differentiated thymic neuroendocrine carcinoma


bladder signet ring cell adenocarcinoma

description: A signet ring cell carcinoma that involves the urinary bladder.


ureter transitional cell carcinoma

description: A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria.


digestive system adenoma

description: A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. 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. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation.


vulvar intraepithelial neoplasia

description: Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type.


vulvar adenocarcinoma

description: An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma.


trabecular adenocarcinoma

description: A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern.


microcystic adenoma

description: A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia.


papillary squamous carcinoma

description: A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva.


name: hereditary clear cell renal cell carcinoma

description: A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.


basaloid carcinoma of the penis

description: An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present.


Wolffian duct adenocarcinoma

description: A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells.


inverted transitional cell papilloma

description: A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern.


large cell neuroendocrine carcinoma

description: A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas.


pleomorphic carcinoma

description: A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism.


ovarian serous adenocarcinoma

description: An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.


thymic mucoepidermoid carcinoma

description: A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports.


endometrial undifferentiated carcinoma

description: A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation.


sinonasal undifferentiated carcinoma

description: A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor.


breast adenoma

description: A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma.


prostate cancer, hereditary, 2

description: Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene.


name: female breast lower-outer quadrant cancer


name: ovarian large-cell neuroendocrine carcinoma

description: A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor.


vulvar basaloid squamous cell carcinoma

description: A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm.


endometrial adenosquamous carcinoma

description: A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components.


trachea carcinoma

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


name: thyroid gland atypical follicular adenoma

description: A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign.


name: oxyphilic endometrial endometrioid adenocarcinoma

description: A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells.


name: cervical large cell neuroendocrine carcinoma

description: A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli.


cavernous hemangioma

description: A hemangioma characterized by the presence of cavernous vascular spaces.


papillary cystic neoplasm

description: A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures.


ovarian seromucinous carcinoma

description: A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium.


cervical clear cell adenocarcinoma

description: A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES).


testicular Brenner tumor

description: An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma.


name: endometrial endometrioid adenocarcinoma with spindled epithelial cells

description: A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells.


Bartholin gland adenoma

description: A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells.


cortical thymoma

description: A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently.


rete ovarii cystadenoma

description: An exceptionally rare cystadenoma that arises from the rete ovarii.


peritoneal carcinoma

description: A peritoneum cancer that is located in the inside of the abdomen.


central breast papilloma

description: A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge.


undifferentiated carcinoma

description: A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation.


name: uterine ligament clear cell adenocarcinoma

description: A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated.


bone carcinoma

description: A carcinoma that involves the bone element.


breast secretory carcinoma

description: A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas.


microscopic breast papilloma

description: A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic.


name: endocervical type cervical mucinous adenocarcinoma

description: A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix.


synchronous bilateral breast carcinoma

description: Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast.


oncocytic adenoma

description: A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland.


lymph node adenoid cystic carcinoma

description: A adenoid cystic carcinoma that involves the lymph node.


name: non-keratinizing sinonasal squamous cell carcinoma

description: A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization.