hepatopulmonary syndrome

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


rectal hyperplastic polyp

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

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


intestinal tuberculosis

description: A tuberculosis that involves the intestine.


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

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


neoplasm of oropharynx

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


name: ampulla of vater mucinous adenocarcinoma

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


salivary gland mucoepidermoid carcinoma

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


liver cavernous hemangioma

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


description: An intrahepatic cholangiocarcinoma that produces abundant mucin.


4-hydroxyphenylacetic aciduria

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


small intestine disorder

description: A disease that involves the small intestine.


colorectal adenocarcinoma

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


anal canal cancer

description: A malignant neoplasm involving the anal canal


autoimmune cholangitis

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


squamous cell carcinoma of colon

description: A squamous cell carcinoma that involves the colon.


name: pancreatic vasoactive intestinal peptide producing tumor

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


mandibular cancer

description: A malignant neoplasm involving the mandible


neurofibroma of gallbladder

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


name: pancreatic large cell neuroendocrine carcinoma

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


rectal sarcomatoid carcinoma

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


duodenal neuroendocrine neoplasm

description: A neuroendocrine neoplasm that involves the duodenum.


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.


microscopic colitis

description: Inflammation of the colon that is only apparent by microscopic examination.


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.


stomach polyp

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


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.


Meckel diverticulum neoplasm

description: A neoplasm involving a Meckel's diverticulum.


gallbladder lymphoma

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


diverticulitis of colon

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


name: colorectal cancer, hereditary nonpolyposis, type 7

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


seronegative autoimmune hepatitis

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


gastric cardia carcinoma

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


name: MYO5B-related progressive familial intrahepatic cholestasis


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


drug-induced liver injury

description: A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment.


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.


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.


esophageal disorder

description: A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas.


name: extrahepatic bile duct mucoepidermoid carcinoma

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


Meckel diverticulitis

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


Peutz-Jeghers polyp

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


carcinoma of hard palate

description: A carcinoma that involves the hard palate.


perianal Crohn disease

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


name: visceral leiomyopathy, African degenerative


esophageal squamous cell carcinoma

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


inflammatory bowel disease 3

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


name: POLD1-related polyposis and colorectal cancer syndrome

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


pancreatic foamy gland adenocarcinoma

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


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


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


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

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


ALPI-related inflammatory bowel disease

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


esophagus verrucous carcinoma

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


name: neonatal diabetes mellitus with congenital hypothyroidism

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


hepatic vascular disorder

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


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.


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


polyp of colon

description: A polyp that involves the colon.


name: gallbladder biliary intraepithelial neoplasia

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


esophagus sarcoma

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


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).


Barrett esophagus

description: Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)


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

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


name: squamous cell carcinoma of liver and intrahepatic biliary tract

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


rectum leiomyosarcoma

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


somatostatinoma

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


name: mixed ductal-endocrine carcinoma of pancreas

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


refractory celiac disease

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


name: porphyria due to ALA dehydratase deficiency

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


familial colorectal cancer type X

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


transverse colon cancer

description: A malignant neoplasm involving the transverse colon.


colorectal lymphoma

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


upper gum cancer

description: A cancer involving a gingiva of upper jaw.


signet ring cell gastric adenocarcinoma

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


primary desmosis coli

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


undifferentiated gallbladder carcinoma

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


salivary gland carcinoma

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


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

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


squamous cell carcinoma of pancreas

description: A squamous cell carcinoma that involves the pancreas.


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.


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.


exocrine pancreatic carcinoma

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


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.


shigellosis

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


rectal tubular adenoma

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.


ulcerative colitis

description: An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.


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


colon signet ring cell adenocarcinoma

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


jejunal neuroendocrine tumor G1

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


squamous cell carcinoma of lip

description: A squamous cell carcinoma that involves the lip.


rectal cancer

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


ileocolitis

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


sigmoid disease

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


liver adenosquamous carcinoma

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


duodenogastric reflux

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


gestational diabetes

description: Carbohydrate intolerance first diagnosed during pregnancy.


laryngotracheoesophageal cleft type 4

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


lipoma of stomach

description: A lipoma that involves the stomach.


name: maturity-onset diabetes of the young type 4

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


small intestine neuroendocrine neoplasm

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


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.


type 1 diabetes mellitus

description: A chronic condition characterized by minimal or absent production of insulin by the pancreas.


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

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


name: mortality factor 4-like protein 1 isoform h3 (human)

description: A mortality factor 4-like protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UBU8-3.


name: USP6 N-terminal-like protein isoform h2 (human)

description: A USP6 N-terminal-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92738-2.


name: USP6 N-terminal-like protein isoform h1 (human)

description: A USP6 N-terminal-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92738-1.


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

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


name: alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A isoform 1 (human)

description: An alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A isoform 1 that is encoded in the genome of human.


protein FAM227B isoform h1 (human)

A protein FAM227B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96M60-1.


F227B_HUMAN Protein FAM227B (sprot)

A protein FAM227B that is encoded in the genome of human.


protein FAM227B isoform h2 (human)

A protein FAM227B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96M60-2.


name: microtubule-associated tumor suppressor 1 homolog isoform m1 (mouse)

description: A microtubule-associated tumor suppressor 1 homolog (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5HZI1-1.


name: cholesteryl ester transfer protein isoform h2 (human)

description: A cholesteryl ester transfer protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P11597-2.


name: cholesteryl ester transfer protein O-glycosylated 1 (human)

description: A cholesteryl ester transfer protein (human) that has been O-glycosylated at the residue equivalent to Thr-266 of the amino acid sequence represented by UniProtKB:P11597-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P11597-1, Thr-266, MOD:00005~GNO:G43417UB.


name: cholesteryl ester transfer protein, signal peptide removed form (human)

description: A cholesteryl ester transfer protein (human) that has had the signal peptide removed. Example: UniProtKB:P11597-1, 18-493.


name: cholesteryl ester transfer protein isoform h1 (human)

description: A cholesteryl ester transfer protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P11597-1.


name: general transcription factor II-I repeat domain-containing protein 2A deaminated 1 (human)

description: A general transcription factor II-I repeat domain-containing protein 2A (human) that has been deaminated on the residue at the position equivalent to Gln-524 of the amino acid sequence represented by UniProtKB:Q86UP8-1. Example: UniProtKB:Q86UP8-1, Gln-524, MOD:00685.


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

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


name: signal transducer and activator of transcription 5a

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


name: STA5A_RAT Signal transducer and activator of transcription 5A (sprot)

description: A signal transducer and activator of transcription 5a that is encoded in the genome of rat.


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

description: A signal transducer and activator of transcription 5A (mouse) that has been phosphorylated at Ser-779. UniProtKB:P42230, Ser-779, MOD:00046.


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

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


name: signal transducer and activator of transcription 1 isoform c (worm)

description: A signal transducer and activator of transcription 1 (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NAD6-3.


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

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


name: signal transducer and activator of transcription 1 isoform b (worm)

description: A signal transducer and activator of transcription 1 (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NAD6-2.


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

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


name: STA5A_MOUSE Signal transducer and activator of transcription 5A (sprot)

description: A signal transducer and activator of transcription 5a that is encoded in the genome of mouse.


name: signal transducer and activator of transcription 1 isoform a (worm)

description: A signal transducer and activator of transcription 1 (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NAD6-1.


name: signal transducer and activator of transcription 5A isoform rStat5A1 (rat)

description: A signal transducer and activator of transcription 5A (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62771-1.


name: signal transducer and activator of transcription 5A isoform rStat5A2 (rat)

description: A signal transducer and activator of transcription 5A (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q62771-2.


name: STAT1_CAEEL Signal transducer and activator of transcription 1 (sprot)

description: A signal transducer and activator of transcription 5a that is encoded in the genome of worm.


name: collagen and calcium-binding EGF domain-containing protein 1 isoform h2 (human)

description: A collagen and calcium-binding EGF domain-containing protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6UXH8-2.


type 4 somatostatin receptor binding

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

description: Binding to a type 4 somatostatin receptor.


name: SOSSC_DANRE SOSS complex subunit C (sprot)

description: A SOSS complex subunit C that is encoded in the genome of zebrafish.


alpha-mannosidase 2x isoform h3 (human)

An alpha-mannosidase 2x (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49641-3.


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.


name: ribonuclease T2 N-glycosylated 2 (human)

description: A ribonuclease T2 (human) that has been N-glycosylated at the residue equivalent to Asn-212 of the amino acid sequence represented by UniProtKB:O00584-1, in which the glycan composition is represented by GlyTouCan:G87051GH. Example: UniProtKB:O00584-1, Asn-212, MOD:00160~GNO:G87051GH.


RNT2_HUMAN Ribonuclease T2 (sprot)

A ribonuclease T2 that is encoded in the genome of human.


name: ribonuclease T2, signal peptide removed form (human)

description: A ribonuclease T2 (human) that has had the signal peptide removed. Example: UniProtKB:O00584-1, 25-256.


ribonuclease T2 cysteinylated 1 (human)

A ribonuclease T2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-13 of the amino acid sequence represented by UniProtKB:O00584-1. Example: UniProtKB:O00584-1, Cys-13, MOD:00765.


name: ribonuclease T2 N-glycosylated 1 (human)

description: A ribonuclease T2 (human) that has been N-glycosylated at the residue equivalent to Asn-212 of the amino acid sequence represented by UniProtKB:O00584-1, in which the glycan composition is represented by GlyTouCan:G60923RB. Example: UniProtKB:O00584-1, Asn-212, MOD:00160~GNO:G60923RB.


ribonuclease T2 isoform h1 (human)

A ribonuclease T2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00584-1.


ribonuclease T2 methylated 1 (human)

A ribonuclease T2 (human) that has been methylated on the residue at the position equivalent to Cys-184 of the amino acid sequence represented by UniProtKB:O00584-1. Example: UniProtKB:O00584-1, Cys-184, MOD:00660.


ribonuclease T2 isoform h2 (human)

A ribonuclease T2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00584-2.


ribonuclease T2 cysteinylated 2 (human)

A ribonuclease T2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-121 of the amino acid sequence represented by UniProtKB:O00584-1. Example: UniProtKB:O00584-1, Cys-121, MOD:00765.


name: SYW_ECOLI Tryptophan--tRNA ligase (sprot)

description: A tryptophan--tRNA ligase that is encoded in the genome of Escherichia coli K-12.


tryptophan--tRNA ligase

A protein that is a translation product of the Escherichia coli K-12 trpS gene or a 1:1 ortholog thereof.


name: PIN2/TERF1-interacting telomerase inhibitor 1 isoform h2 (human)

description: A PIN2/TERF1-interacting telomerase inhibitor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96BK5-2.


pin2-interacting protein X1

A protein that is a translation product of the human PINX1 gene or a 1:1 ortholog thereof.


PXR1_SCHPO Protein pxr1 (sprot)

A pin2-interacting protein X1 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


name: PINX1_HUMAN PIN2/TERF1-interacting telomerase inhibitor 1 (sprot)

description: A pin2-interacting protein X1 that is encoded in the genome of human.


name: PINX1_MOUSE PIN2/TERF1-interacting telomerase inhibitor 1 (sprot)

description: A pin2-interacting protein X1 that is encoded in the genome of mouse.


name: PIN2/TERF1-interacting telomerase inhibitor 1 isoform h1 (human)

description: A PIN2/TERF1-interacting telomerase inhibitor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96BK5-1.


name: PINX1_RAT PIN2/TERF1-interacting telomerase inhibitor 1 (sprot)

description: A pin2-interacting protein X1 that is encoded in the genome of rat.


Major microspecies at pH 7.3.


3-oxo-23-hydroxyurs-12-en-28-oic acid

A pentacyclic triterpenoid that is urs-12-ene substituted by an oxo group at position 3, a carboxy group at position 28 and a hydroxy group at position 23. It has been isolated from Juglans sinensis.


mucin-6 N-glycosylated 4 (human)

A mucin-6 (human) that has been N-glycosylated at the residue equivalent to Asn-902 of the amino acid sequence represented by UniProtKB:Q6W4X9-1, in which the glycan composition is represented by GlyTouCan:G66933CM. Example: UniProtKB:Q6W4X9-1, Asn-902, MOD:00160~GNO:G66933CM.


Supratentorial Gliosarcoma

description: A gliosarcoma arising from the supratentorial region.


Cerebral Glioblastoma

description: A glioblastoma that occurs in the cerebrum.


name: transcription factor HES-3 isoform 1 (rat)

description: A transcription factor HES-3 isoform 1 that is encoded in the genome of rat.


A limonoid that is azadiradione substituted by a hydroxy group at position 17. It has been isolated from Azadirachta indica.


name: AP-1 complex subunit beta-1 deaminated 2 (human)

description: An AP-1 complex subunit beta-1 (human) that has been deaminated on the residue at the position equivalent to Gln-353 of the amino acid sequence represented by UniProtKB:Q10567-1. Example: UniProtKB:Q10567-1, Gln-353, MOD:00685.


name: UPF0688 protein C1orf174 homolog isoform 1 (zebrafish)

description: A UPF0688 protein C1orf174 homolog (zebrafish) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q1L9C7-1.


name: membrane cofactor protein isoform h2 (human)

description: A membrane cofactor protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P15529-10.


name: 2,4-dichlorobenzoic acid 1,2,4-triazol-1-ylmethyl ester


ELAV-like protein 4 isoform m2 (mouse)

An ELAV-like protein 4 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q61701-2.


name: zinc finger protein 385A isoform 2 (mouse)

description: A zinc finger protein 385A isoform 1 that is encoded in the genome of mouse.


name: zinc finger protein 385A isoform 1 (mouse)

description: A zinc finger protein 385A isoform 4 that is encoded in the genome of mouse.


name: YBEY_ECOLI Endoribonuclease YbeY (sprot)

description: An endoribonuclease YbeY that is encoded in the genome of Escherichia coli K-12.


name: CRIPT_RAT Cysteine-rich PDZ-binding protein (sprot)

description: A cysteine-rich PDZ-binding protein that is encoded in the genome of rat.


name: cysteine-rich PDZ-binding protein isoform 1 (rat)

description: A cysteine-rich PDZ-binding protein isoform 1 that is encoded in the genome of rat.


tetraspanin-33 isoform m2 (mouse)

A tetraspanin-33 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8R3S2-2.


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

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


name: VHT1_SCHPO Vitamin H transporter 1 (sprot)

description: A protein that is a translation product of the vht1 gene in Schizosaccharomyces pombe 972h-.


NRAM_I68A3 Neuraminidase (sprot)

A neuraminidase subtype N4 (Influenza A virus) that is encoded in the genome of the H8N4 strain A/Turkey/Ontario/6118/1968.


name: FR1L5_MOUSE Fer-1-like protein 5 (sprot)

description: A Fer-1-like protein 5 that is encoded in the genome of mouse.


name: probable ATP-dependent RNA helicase DDX59 isoform m2 (mouse)

description: A probable ATP-dependent RNA helicase DDX59 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9DBN9-2.


name: voltage-dependent calcium channel gamma-5 subunit isoform 1 (mouse)

description: A voltage-dependent calcium channel gamma-5 subunit isoform 1 that is encoded in the genome of mouse.


name: voltage-dependent calcium channel gamma-5 subunit

description: A protein that is a translation product of the human CACNG5 gene or a 1:1 ortholog thereof.


name: CCG5_MOUSE Voltage-dependent calcium channel gamma-5 subunit (sprot)

description: A voltage-dependent calcium channel gamma-5 subunit that is encoded in the genome of mouse.


name: voltage-dependent calcium channel gamma-5 subunit isoform 1 (human)

description: A voltage-dependent calcium channel gamma-5 subunit isoform 1 that is encoded in the genome of human.


name: CCG5_HUMAN Voltage-dependent calcium channel gamma-5 subunit (sprot)

description: A voltage-dependent calcium channel gamma-5 subunit that is encoded in the genome of human.


name: CCG5_RAT Voltage-dependent calcium channel gamma-5 subunit (sprot)

description: A voltage-dependent calcium channel gamma-5 subunit that is encoded in the genome of rat.


name: voltage-dependent calcium channel gamma-5 subunit isoform 1

description: A voltage-dependent calcium channel gamma-5 subunit that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UF02-1 or a 1:1 ortholog thereof.


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.


name: FB212_ARATH F-box protein At3g59150 (sprot)

description: A protein that is a translation product of the At3g59150 gene in Arabidopsis thaliana.


name: THO7B_ARATH THO complex subunit 7B (sprot)

description: A protein that is a translation product of the THO7B gene in Arabidopsis thaliana.


name: tubulin epsilon and delta complex protein 2 cysteinylated 1 (human)

description: A tubulin epsilon and delta complex protein 2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-331 of the amino acid sequence represented by UniProtKB:Q7L2K0-1. Example: UniProtKB:Q7L2K0-1, Cys-331, MOD:00765.


name: leucine-rich repeat-containing protein 51 isoform h2 (human)

description: A leucine-rich repeat-containing protein 51 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96E66-2.


name: LRC51_HUMAN Leucine-rich repeat-containing protein 51 (sprot)

description: A leucine-rich repeat-containing protein 51 that is encoded in the genome of human.


name: leucine-rich repeat-containing protein 51 isoform h5 (human)

description: A leucine-rich repeat-containing protein 51 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96E66-5.


name: leucine-rich repeat-containing protein 51 isoform h3 (human)

description: A leucine-rich repeat-containing protein 51 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96E66-3.


name: leucine-rich repeat-containing protein 51 isoform h1 (human)

description: A leucine-rich repeat-containing protein 51 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96E66-1.


name: leucine-rich repeat-containing protein 51 isoform h4 (human)

description: A leucine-rich repeat-containing protein 51 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96E66-4.


name: leucine-rich repeat-containing protein 51 isoform h6 (human)

description: A leucine-rich repeat-containing protein 51 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96E66-6.


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.


organodiyl group

Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s).


alkylidene group

A divalent group formed from an alkane by removal of two hydrogen atoms from the same carbon atom, the free valencies of which are part of a double bond.


hydrocarbylene group

A bivalent group formed by removing two hydrogen atoms from a hydrocarbon, the free valencies of which are not engaged in a double bond.


peptidylproline (omega=180) residue

The organodiyl group derived from peptidylproline (omega=180)


propylidene group

An alkylidiene group formed from propane by removal of two hydrogen atoms from the same carbon atom, the free valencies of which are part of a double bond.


CHOH group

The organodiyl group obtained by removal of two of the methyl protons from methanol.


alkenylidene group

A divalent group =CnH2n-2 formed from an alkene by removal of two hydrogen atoms from the same carbon atom, the free valencies of which are part of a double bond.


hydrocarbylidene group

A divalent group, R2C=, formed by removing two hydrogen atoms from the same carbon atom of a hydrocarbon, the free valencies of which are engaged in a double bond.


arylene group

A bivalent group derived from an arene by removal of a hydrogen atom from each of two ring carbon atoms.


peptidylproline (omega=0) residue

The organodiyl group derived from peptidylproline (omega=0).


name: PRRX2_HUMAN Paired mesoderm homeobox protein 2 (sprot)

description: A paired mesoderm homeobox protein 2 that is encoded in the genome of human.


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

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


name: exopolyphosphatase PRUNE1 isoform 1 (rat)

description: An exopolyphosphatase PRUNE1 isoform 1 that is encoded in the genome of rat.


name: smad-related protein daf-14 isoform b (worm)

description: A smad-related protein daf-14 (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:F5GUE5-1.


A triazolopyridazine that is tetrahydro-1H-[1,2,4]triazolo[1,2-a]pyridazine which is substituted at positions 1, 3, and 4 by oxo, sulfanyl  and 4-chloro-2-fluoro-5-[(2-methoxy-2-oxoethyl)sulfanyl]phenyl groups, respectively. The active metabolite of the proherbicide fluthiacet-methyl.


name: SPRY domain-containing SOCS box protein 1 isoform 1 (human)

description: A SPRY domain-containing SOCS box protein 1 isoform 1 that is encoded in the genome of human.


name: SPRY domain-containing SOCS box protein 1 isoform 1

description: A SPRY domain-containing SOCS box protein 1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96BD6-1 or a 1:1 ortholog thereof.


name: SPRY domain-containing SOCS box protein 1 isoform 1 (mouse)

description: A SPRY domain-containing SOCS box protein 1 isoform 1 that is encoded in the genome of mouse.


atactic macromolecule

A macromolecule in which the substituents are placed randomly along the backbone.


host cell factor 2

A protein that is a translation product of the human HCFC2 gene or a 1:1 ortholog thereof.


HCFC2_MOUSE Host cell factor 2 (sprot)

A host cell factor 2 that is encoded in the genome of mouse.


HCFC2_RAT Host cell factor 2 (sprot)

A host cell factor 2 that is encoded in the genome of rat.


host cell factor 2 deaminated 2 (human)

A host cell factor 2 (human) that has been deaminated on the residue at the position equivalent to Gln-747 of the amino acid sequence represented by UniProtKB:Q9Y5Z7-1. Example: UniProtKB:Q9Y5Z7-1, Gln-747, MOD:00685.


HCFC2_HUMAN Host cell factor 2 (sprot)

A host cell factor 2 that is encoded in the genome of human.


host cell factor 2 deaminated 1 (human)

A host cell factor 2 (human) that has been deaminated on the residue at the position equivalent to Asn-371 of the amino acid sequence represented by UniProtKB:Q9Y5Z7-1. Example: UniProtKB:Q9Y5Z7-1, Asn-371, MOD:00684.


host cell factor 2 isoform h1 (human)

A host cell factor 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y5Z7-1.


host cell factor 2 isoform h2 (human)

A host cell factor 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y5Z7-2.


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.


treacle protein isoform h5 (human)

A treacle protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13428-5.


name: tyrosine-protein phosphatase non-receptor type substrate 1 N-glycosylated 33 (rat)

description: A tyrosine-protein phosphatase non-receptor type substrate 1 (rat) that has been N-glycosylated at the residue equivalent to Asn-93 of the amino acid sequence represented by UniProtKB:P97710-1, in which the glycan composition is represented by GlyTouCan:G67324HN. Example: UniProtKB:P97710-1, Asn-93, MOD:00160~GNO:G67324HN.


name: RS16_PSEAE Small ribosomal subunit protein bS16 (sprot)

description: A small ribosomal subunit protein bS16 that is encoded in the genome of Pseudomonas aeruginosa PAO1.


name: CD209 antigen-like protein D isoform m2 (mouse)

description: A CD209 antigen-like protein D (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q91ZW8-2.


name: prenylcysteine oxidase 1 N-glycosylated 11 (rat)

description: A prenylcysteine oxidase 1 (rat) that has been N-glycosylated at the residue equivalent to Asn-352 of the amino acid sequence represented by UniProtKB:Q99ML5-1, in which the glycan composition is represented by GlyTouCan:G62765YT. Example: UniProtKB:Q99ML5-1, Asn-352, MOD:00160~GNO:G62765YT.


name: intermediate filament protein ifb-2 isoform a (worm)

description: An intermediate filament protein ifb-2 (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q19286-1.


centromeric sister chromatid cohesion

description: The cell cycle process in which the sister chromatids of a replicated chromosome are joined along the length of the centromeric region of the chromosome.


cell cycle process

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


meiotic cell cycle checkpoint signaling

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

description: A signaling process that contributes to a meiotic cell cycle checkpoint that ensures accurate chromosome replication and segregation by preventing progression through a meiotic cell cycle until conditions are suitable for the cell to proceed to the next stage.


meiotic nuclear membrane disassembly

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


name: spindle assembly involved in male meiosis I

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


name: metaphase/anaphase transition of meiosis II

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


name: establishment of meiotic spindle orientation

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


name: meiotic telomere maintenance via semi-conservative replication

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


name: regulation of syncytial blastoderm mitotic cell cycle

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


name: astral microtubule anchoring at mitotic spindle pole body

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


name: mitotic cohesin ssDNA (lagging strand) loading

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


meiotic DNA repair synthesis

description: During meiosis, the synthesis of DNA proceeding from the broken 3' single-strand DNA end that uses the homologous intact duplex as the template.


actomyosin contractile ring assembly

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


spindle disassembly

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


spindle organization

description: A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the spindle, the array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during DNA segregation and serves to move the duplicated chromosomes apart.


name: mitotic cohesin dsDNA (leading strand) loading

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


name: meiotic G2/MI DNA replication checkpoint signaling

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


plant-type sporogenesis

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


male meiosis II

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


name: meiotic chromosome movement towards spindle pole

description: The cell cycle process in which the directed movement of chromosomes from the center of the spindle towards the spindle poles takes place, mediated by the shortening of microtubules attached to the chromosomes. This occurs during meiosis.


name: cell cycle switching, mitotic to meiotic cell cycle

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


name: mitotic sister chromatid cohesion, centromeric

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


name: mitotic pre-replicative complex assembly

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


mitotic cleavage furrow formation

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


cytokinesis

description: The division of the cytoplasm and the plasma membrane of a cell and its partitioning into two daughter cells.


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

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


name: microtubule bundle formation involved in horsetail-astral microtubule organization

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


name: mitotic G1/S transition checkpoint signaling

description: A cell cycle checkpoint that detects and negatively regulates progression from G1 to S phase as part of a mitotic cell cycle.


mitotic spindle checkpoint signaling

description: A signaling process that contributes to a mitotic cell cycle checkpoint that originates from the spindle and delays the metaphase/anaphase transition of a mitotic nuclear division until the spindle is correctly assembled and oriented, the completion of anaphase until chromosomes are attached to the spindle, or mitotic exit and cytokinesis when the spindle does not form.


mitotic cleavage furrow ingression

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