extrahepatic bile duct adenoma

description: An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary.


diazoxide-resistant hyperinsulinism

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

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


salivary gland small cell carcinoma

description: An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures.


colon serrated polyposis

description: The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon.


hereditary mixed polyposis syndrome

description: Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.


small intestinal tubulovillous adenoma

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


Crohn jejunitis

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


large intestine disorder

description: A disease that involves the large intestine.


inflammatory bowel disease 23

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1.


tonsillar fossa cancer

description: A cancer involving a tonsillar fossa.


goblet cell carcinoma

description: An aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.


Lynch syndrome 1

description: Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene.


herpetic gastritis

description: Gastritis resulting from herpes virus.


cecum neuroendocrine tumor G1

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


name: generalized juvenile polyposis/juvenile polyposis coli


NK-cell enteropathy

description: Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.


Lynch syndrome 2

description: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene.


congenital short bowel syndrome

description: Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.


anus cancer

description: A malignant neoplasm involving the anus


megacolon

description: An abnormal dilation of the colon not due to obstruction.


maxillary sinus adenocarcinoma

description: An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs.


hyperbiliverdinemia

description: Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.


floor of mouth mucoepidermoid carcinoma

description: A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth.


name: small intestinal L-cell glucagon-like peptide producing tumor

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


anal canal neuroendocrine neoplasm

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


colorectal neuroendocrine tumor G1

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


name: congenital sucrase-isomaltase deficiency with minimal starch tolerance


name: familial gastric type 1 neuroendocrine tumor


name: colorectal sessile serrated adenoma/polyp

description: A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability.


colorectal leiomyoma

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


name: enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor

description: A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome.


benign duodenal neoplasm

description: A non-metastasizing neoplasm arising from the wall of the duodenum.


name: splenic manifestation of hairy cell leukemia

description: A hairy cell leukemia that involves the spleen.


inflammatory bowel disease 16

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32.


Lynch syndrome 4

description: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene.


cholesterolosis of gallbladder

description: A disorder characterized by a change in the gallbladder wall due to excess cholesterol.


cecum cancer

description: A malignant neoplasm involving the caecum


name: multisystemic smooth muscle dysfunction syndrome

description: Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals.


description: An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts.


ampulla of vater neoplasm

description: A benign or malignant neoplasm involving the ampulla of Vater.


name: colorectal diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that arises from the colon or rectum.


name: immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

description: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.


laryngotracheoesophageal cleft type 0

description: Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.


colonic lymphangioma

description: A lymphangioma arising from the colon.


liver diffuse large B-cell lymphoma

description: A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver.


vestibule of mouth cancer

description: A cancer that involves the oral opening.


ulcerative proctosigmoiditis

description: Inflammation of the rectum and the distal portion of the colon.


pylorus cancer

description: A malignant neoplasm involving the pylorus.


bile duct papillary neoplasm

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


name: cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 1

description: A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract.


anal gland neoplasm

description: Tumors or cancer of the anal gland.


name: extrahepatic bile duct squamous cell carcinoma

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


anus lymphoma

description: A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men.


anal mucinous adenocarcinoma

description: An anal adenocarcinoma characterized by the presence of mucoid stroma formation.


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

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


hemangiomas of small intestine

description: A hemangioma that involves the small intestine.


balantidiasis

description: Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer.


liver mesenchymal hamartoma

description: A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good.


colorectal signet ring cell carcinoma

description: An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate.


name: hyperinsulinemic hypoglycemia, familial, 4

description: Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.


name: malignant neoplasm of abdominal esophagus

description: A cancer that involves the abdominal part of esophagus.


benign digestive system neoplasm

description: A non-metastasizing neoplasm arising from any part of the digestive system.


esophagus lymphoma

description: An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.


name: diabetes mellitus, transient neonatal, 1

description: K ATP channel-associated neonatal diabetes mellitus that resolves spontaneously.


name: malignant tumor of extrahepatic bile duct

description: A cancer that involves the extrahepatic bile duct.


gastric hamartomatous polyp

description: A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations.


tubular duplication of the esophagus

description: Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.


name: maturity-onset diabetes of the young type 2

description: Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.


glycogen storage disease IXa1

description: Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.


appendix hyperplastic polyp

description: A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia.


rectum lymphoma

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


esophageal ulcer

description: An ulcerated lesion in the esophageal wall.


name: maturity-onset diabetes of the young type 13

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.


name: fibrohistiocytic inflammatory pseudotumor of the liver

description: A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.


gastric intestinal type adenocarcinoma

description: An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated.


name: intrahepatic bile duct adenosquamous carcinoma

description: An adenosquamous carcinoma that arises from the intrahepatic bile ducts.


jejunal neoplasm

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


bile duct cyst

description: Cystic dilatation of the hepatic duct or bile duct.


name: isolated neonatal sclerosing cholangitis

description: Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.


gastric dilatation

description: Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation.


extrahepatic bile duct leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells.


lipoma of colon

description: A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction.


annular pancreas

description: Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.


hyperinsulinism due to HNF4A deficiency

description: Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).


gallbladder mucinous adenocarcinoma

description: An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.


name: autosomal recessive hyperinsulinism due to SUR1 deficiency


esophageal lipoma

description: A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections.


aggressive insulitis

description: Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes.


bile duct carcinoma in situ

description: A carcinoma in situ involving a bile duct.


description: Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.


endocrine pancreas disorder

description: A disease involving the endocrine pancreas.


name: small intestinal enteropathy-associated T-cell lymphoma

description: An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate.


inflammatory bowel disease 9

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26.


cecal disorder

description: Pathological developments in the cecum.


mixed hepatoblastoma

description: A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component.


familial porphyria cutanea tarda

description: An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.


name: cholestasis, progressive familial intrahepatic, 5

description: Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.


name: inflammatory skin and bowel disease, neonatal, 1

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


distal biliary tract carcinoma

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


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

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


ileal neuroendocrine tumor G1

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


esophageal varices with bleeding

description: Bleeding from esophageal varices.


name: diabetes mellitus, noninsulin-dependent, 4


name: cholestasis, progressive familial intrahepatic, 8


rectum carcinoma in situ

description: A in situ carcinoma that involves the rectum.


esophageal adenosquamous carcinoma

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


extrahepatic biliary papillomatosis

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


hereditary gallbladder disorder

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


name: squamous cell carcinoma of the small intestine

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


gastric linitis plastica

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


name: visceral neuropathy, familial, 3, autosomal dominant


name: solid pseudopapillary carcinoma of pancreas

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


name: lymphoplasmacytic inflammatory pseudotumor of the liver

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


diffuse gastric adenocarcinoma

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


name: pyloric stenosis, infantile hypertrophic, 4


Waardenburg syndrome type 4C

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


amebic dysentery

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


name: signet ring cell intrahepatic cholangiocarcinoma

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


extrahepatic bile duct neoplasm

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


name: diarrheal disease secondary to decreased bowel motility

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


name: extrahepatic bile duct signet ring cell carcinoma

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


suppurative cholangitis

description: Cholangitis that is characterized by pyogenic organisms.


gastric squamous cell carcinoma

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


appendix leiomyoma

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


name: gallbladder neuroendocrine tumor, grade 1/2

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


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

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


benign colon neoplasm

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


coenurosis

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


name: pancreatic lipomatosis duodenal stenosis


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

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


inflammatory bowel disease 13

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


gastric non-hodgkin lymphoma

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


name: maturity-onset diabetes of the young type 6

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


functional colonic disease

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


rectal cloacogenic carcinoma

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


name: autosomal dominant hyperinsulinism due to Kir6.2 deficiency

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


extrahepatic bile duct cystadenoma

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


name: chronic atrial and intestinal dysrhythmia

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


intussusception

description: Telescoping or invagination of a part of the intestine into an adjacent segment.


bile duct adenoma

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


epithelial tumor of the appendix

description: A epithelial neoplasm that involves the vermiform appendix.


macrotrabecular hepatoblastoma

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


gallstones

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


name: ampulla of vater adenosquamous carcinoma

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


inflammatory bowel disease 24

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


name: Hirschsprung disease-hearing loss-polydactyly syndrome

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


hyperinsulinism due to INSR deficiency

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


name: mixed fibrolamellar hepatocellular carcinoma

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


sublingual gland cancer

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


extrahepatic bile duct rhabdomyosarcoma

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


name: transient familial neonatal hyperbilirubinemia

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


steatorrhea

description: A finding of an excessive amount of fat in the stool.


name: congenital diarrhea 7 with exudative enteropathy

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


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

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


name: diffuse cavernous hemangioma of the rectum


lip carcinoma in situ

description: A in situ carcinoma that involves the lip.


infantile liver failure syndrome 1

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


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

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


small intestinal sarcoma

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


name: pancreatic non-invasive mucinous cystadenocarcinoma

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


mucocele of appendix

description: Accumulation of mucus within the appendix.


small intestinal tubular adenoma

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


vallecula cancer

description: A cancer involving a epiglottic vallecula.


benign neoplasm of rectum

description: A benign neoplasm that involves the rectum.


diffuse gastric cancer

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


name: pancreatic small cell neuroendocrine carcinoma

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


rectal signet ring cell adenocarcinoma

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


disorder of appendix

description: A disease or disorder that involves the vermiform appendix.


gastroduodenal Crohn disease

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


pancreatic mucinous-cystic neoplasm

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


endometriosis of intestine

description: Endometriosis that affects the intesines.


rectal hyperplastic polyp

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


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

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


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.


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.


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.


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.


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


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.


name: displacement of cardia through esophageal hiatus


name: diabetes mellitus, noninsulin-dependent, 2


anal canal carcinoma in situ

description: A carcinoma in situ involving a anal canal.


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.


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.


name: colorectal cancer, hereditary nonpolyposis, type 7

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


seronegative autoimmune hepatitis

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


name: MYO5B-related progressive familial intrahepatic cholestasis


name: congenital sucrase-isomaltase deficiency without starch intolerance


Peutz-Jeghers polyp of the stomach

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


name: pancreatic signet ring cell adenocarcinoma

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


angiodysplasia of stomach

description: A angiodysplasia that involves the stomach.


intrahepatic biliary papillomatosis

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


esophagus liposarcoma

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


esophageal leukoplakia

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


name: congenital short bowel syndrome, autosomal recessive


liver lipoma

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


congenital esophageal diverticulum

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


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

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


name: diabetes mellitus, noninsulin-dependent, 1


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 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


lipoma of the rectum

description: A benign adipose tissue neoplasm of the rectum.


toxic megacolon

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


gallbladder lipoma

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


colon neuroendocrine neoplasm

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


name: food protein-induced allergic proctocolitis

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


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


intestinal disaccharidase deficiency

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


gastric neuroendocrine tumor G2

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


gastric neuroendocrine neoplasm

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


epithelial tumor of anal canal

description: A epithelial neoplasm that involves the anal canal.


pancreatic serous cystadenoma

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


name: extrahepatic bile duct mucoepidermoid carcinoma

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


Meckel diverticulitis

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


Peutz-Jeghers polyp

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


carcinoma of hard palate

description: A carcinoma that involves the hard palate.


name: visceral leiomyopathy, African degenerative


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)


hepatic vascular disorder

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


name: neonatal inflammatory skin and bowel disease

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


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


juvenile polyp

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


extrahepatic bile duct adenocarcinoma

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


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.


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.


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.


familial colorectal cancer type X

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


upper gum cancer

description: A cancer involving a gingiva of upper jaw.


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.


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.


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.


small intestinal Burkitt lymphoma

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


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.


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.


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.


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.


name: hereditary North American Indian childhood cirrhosis

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


rectal tubular adenoma

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


immature gastric teratoma

description: A malignant teratoma that arises from the stomach.


appendix adenoma

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


jejunal somatostatinoma

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


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.


sigmoid disease

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


liver adenosquamous carcinoma

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


duodenogastric reflux

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


laryngotracheoesophageal cleft type 4

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


lipoma of stomach

description: A lipoma that involves the stomach.


name: maturity-onset diabetes of the young type 4

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


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).


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.


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.


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.


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.


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.


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.


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).


insulin-resistance syndrome type B

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


colon juvenile polyp

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


name: cutaneous photosensitivity-lethal colitis syndrome

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


intestinal motility disease

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


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


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.


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.


Waardenburg syndrome type 4A

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


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

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


name: 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: 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.


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

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


name: signal transducer and activator of transcription 5a

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


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

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


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

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


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

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


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.


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.


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.


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: 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.


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.


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.


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: 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: 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: 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: 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.


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: 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.


Multiple hamartoma of lung

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


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

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


Increased CSF alanine concentration

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

description: Abnormally increased levels of alanine in cerebrospinal fluid.


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.


host cell factor 2

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


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.


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.


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.


Glutathionuria

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


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

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


name: Increased level of galactitol in red blood cells

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


homeobox protein BarH-like 1

A protein that is a translation product of the human BARX1 gene or a 1:1 ortholog thereof.


name: homeobox protein BarH-like 1 isoform 1 (human)

description: A homeobox protein BarH-like 1 isoform 1 that is encoded in the genome of human.


name: homeobox protein BarH-like 1 isoform h2 (human)

description: A homeobox protein BarH-like 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:Q9HBU1-2.


cyclin-T1 isoform h1 (human)

A cyclin-T1 (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:O60563-1.


name: bromodomain adjacent to zinc finger domain protein 2A methylated 2 (human)

description: A bromodomain adjacent to zinc finger domain protein 2A (human) that has been methylated on the residue at the position equivalent to Cys-1720 of the amino acid sequence represented by UniProtKB:Q9UIF9-1. Example: UniProtKB:Q9UIF9-1, Cys-1720, MOD:00660.


name: phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN sequence variant Q245*, initiator methionine removed form (human)

description: A phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN (human) that has has been truncated after the position equivalent to Pro-244 of the amino acid sequence represented by UniProtKB:P60484-1 and that has had the initiator methionine removed. Example: UniProtKB:P60484-1, 2-244.


ELAEODENDROSIDE W

A cardenolide glycoside that is 3,5,11,14-tetrahydroxy-19-oxocard-20(22)-enolide glycosylated at position 3 by a beta-allosyl-(1->4)-beta-6-deoxyallosyl group. Isolated from Elaeodendron alluaudianum, it exhibits antiproliferative activity against human ovarian cancer and human histiocytic lymphoma cell lines.


pediatric ovarian dysgerminoma

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


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

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


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

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


name: peroxisomal trans-2-enoyl-CoA reductase isoform 1 (human)

description: A peroxisomal trans-2-enoyl-CoA reductase isoform 1 that is encoded in the genome of human.


spermine oxidase isoform 1 (human)

A spermine oxidase isoform 1 that is encoded in the genome of human.


spermine oxidase

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


spermine oxidase isoform 6 (human)

A spermine oxidase isoform 6 that is encoded in the genome of human.


spermine oxidase isoform h2 (human)

A spermine oxidase (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:Q9NWM0-2.


spermine oxidase isoform h5 (human)

A spermine oxidase (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:Q9NWM0-5.


spermine oxidase isoform 3 (human)

A spermine oxidase isoform 3 that is encoded in the genome of human.


spermine oxidase isoform h4 (human)

A spermine oxidase (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:Q9NWM0-4.


name: myosin-9, initiator methionine removed form (human)

description: A myosin-9 (human) that has had the initiator methionine removed. UniProtKB:P35579, 2-1960.


HALOXYFOP

A monocarboxylic acid that is 2-phenoxypropanoic acid in which the hydrogen at the para position of the phenyl ring has been replaced by a [3-chloro-5-(trifluoromethyl)pyridin-2-yl]oxy group.


(S)-haloxyfop

A 2-(4-{[3-chloro-5-(trifluoromethyl)pyridin-2-yl]oxy}phenoxy)propanoic acid that has S configuration. It is the least-active enantiomer of the (racemic) herbicide haloxyfop.


name: protocadherin gamma-B1 cysteinylated 1 (human)

description: A protocadherin gamma-B1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-380 of the amino acid sequence represented by UniProtKB:Q9Y5G3-1. Example: UniProtKB:Q9Y5G3-1, Cys-380, MOD:00765.


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

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


Low serum calcitriol

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


name: Decreased circulating calcifediol concentration

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


name: Infant-Type Hemispheric Glioma, ROS1-Altered

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


name: cilium assembly protein DZIP1 isoform h3 (human)

description: A cilium assembly protein DZIP1 (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:Q86YF9-3.


Dermal flame figures

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


protein LRATD1 isoform 1 (human)

A protein LRATD1 isoform 1 that is encoded in the genome of human.


name: FSH-Producing Pituitary Neuroendocrine Tumor

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


Anterior Pituitary Gland Neoplasm

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


name: Immature PIT1 Lineage Pituitary Neuroendocrine Tumor

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


name: Pituitary Neuroendocrine Tumor without Distinct Lineage Differentiation

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


name: Locally Advanced Pituitary Neuroendocrine Tumor

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


name: Somatotroph-Lactotroph Pituitary Neuroendocrine Tumor

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


name: Pituitary Neuroendocrine Tumor of PIT1-Lineage

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


name: Densely Granulated Corticotroph Pituitary Neuroendocrine Tumor

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


name: Pituitary Neuroendocrine Tumor of SF1-Lineage

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


name: Pituitary Neuroendocrine Tumor, Not Otherwise Specified

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


Crooke Cell Tumor

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


name: Mammosomatotroph Pituitary Neuroendocrine Tumor

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


name: Null Cell Pituitary Neuroendocrine Tumor

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


name: LH-Producing Pituitary Neuroendocrine Tumor

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


name: Plurimorphous Plurihormonal Pituitary Neuroendocrine Tumor

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


name: Non-Functioning Densely Granulated Corticotroph Pituitary Neuroendocrine Tumor

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


name: ACTH-producing pituitary gland carcinoma

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


name: Non-Functioning Pituitary Neuroendocrine Tumor/Macroadenoma

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


pituitary blastoma

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


name: mixed somatotroph-lactotroph pituitary gland adenoma

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


name: Functioning Pituitary Neuroendocrine Tumor/Macroadenoma

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


name: Functioning Pituitary Neuroendocrine Tumor/Microadenoma

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


name: Recurrent Anterior Pituitary Gland Neoplasm

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


name: Double Pituitary Neuroendocrine Tumors of Distinct Lineages

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


name: Non-Functioning Corticotroph Pituitary Neuroendocrine Tumor

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


name: growth hormone-producing pituitary gland carcinoma

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


name: Monomorphous Plurihormonal Pituitary Neuroendocrine Tumor

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


Ectopic Pituitary Neuroendocrine Tumor

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


name: Acidophil Stem Cell Pituitary Neuroendocrine Tumor

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


name: Non-Functioning Pituitary Neuroendocrine Tumor/Microadenoma

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


name: Pituitary Neuroendocrine Tumor of TPIT-Lineage

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


name: Sparsely Granulated Somatotroph Pituitary Neuroendocrine Tumor

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


name: Densely Granulated Lactotroph Pituitary Neuroendocrine Tumor

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


name: Sparsely Granulated Lactotroph Pituitary Neuroendocrine Tumor

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


name: Metastatic Unresectable Pituitary Neuroendocrine Tumor

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


name: Plurihormonal Pituitary Neuroendocrine Tumor

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


name: Mature Plurihormonal PIT1 Lineage Pituitary Neuroendocrine Tumor

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