name: Congenital Nephrotic Syndrome - Cytomegalovirus Associated

description: Nephrotic syndrome associated with a cytomegalovirus infection, most commonly presenting in the first three months of life.


name: Light Chain Proximal Tubulopathy without Crystals

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

description: A morphologic variant of light chain proximal tubulopathy with no evidence of crystal formation. It is characterized by acute tubular injury with no evidence lysosomal immunoglobulin crystals.


Nephrotic Syndrome - CD2AP Associated

description: Nephrotic syndrome attributed to mutation(s) in the CD2AP gene.


name: Nephrotic Syndrome - Toxoplasmosis Associated

description: Nephrotic syndrome associated with a toxoplasmosis infection.


Nephrotic Syndrome - ARHGDIA Associated

description: Nephrotic syndrome attributed to mutation(s) in the ARHGDIA gene.


Acute glomerulonephritis

description: An acute inflammation of the glomeruli, generally secondary to infection or injury.


name: Nephrotic Syndrome - Syphilis Associated

description: Nephrotic syndrome associated with a syphilis infection.


Nephrotic Syndrome - NPHS2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the NPHS2 gene.


name: C3 Glomerulopathy with Monoclonal Gammopathy

description: A subset of C3 glomerulopathy in which there is an associated finding of monoclonal gammopathy.


Nephrotic Syndrome - CUBN Associated

description: Nephrotic syndrome attributed to mutation(s) in the CUBN gene.


Malignant Hypertensive Nephropathy

description: Hypertensive nephropathy secondary to malignant hypertension.


name: Systemic Lupus Erythematosus Nephritis Class IV S

description: Systemic lupus erythematosus nephritis characterized by active or inactive diffuse, segmental endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


Lithium - Induced Nephropathy

description: Kidney damage resulting from lithium which may include distal or collecting tubular cysts, proteinuria, interstitial nephritis and nephrogenic diabetes insipidus.


Secondary Collapsing Glomerulopathy

description: Collapsing glomerulopathy for which an underlying cause has been identified.


Focal Segmental Glomerulosclerosis 7

description: An autosomal dominant type of focal segmental glomerulosclerosis caused by mutation(s) in the PAX2  gene, encoding which paired box protein Pax-2.


Postpartum acute renal failure

description: Renal failure that occurs postpartum due to any partum problem (hemorrhage, sepsis, preeclampsia).


Nephrotic Syndrome - INF2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the INF2 gene.


name: Congenital Nephrotic Syndrome - Toxoplasma Associated

description: Nephrotic syndrome associated with toxoplasmosis, most commonly presenting in the first three months of life.


Nephrotic Syndrome - ANLN Associated

description: Nephrotic syndrome attributed to mutation(s) in the ANLN gene.


Acute cellular allograft nephropathy

description: A sudden onset of T-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens.


Scleroderma renal crisis

description: The onset of acute renal failure, normally coupled with marked hypertension in a patient with scleroderma.


Nephrotic Syndrome - EMP2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the EMP2 gene.


name: Membranous Nephropathy - Malignancy Associated

description: Membranous nephropathy in the context of malignancy.


name: Acute Kidney Injury without Renal Replacement Therapy Related to COVID-19

description: Abrupt reduction in kidney function as measured by urine output and renal biomarkers but not requiring any renal replacement therapy in a patient with probable or confirmed acute COVID-19.


name: Nephrotic Syndrome with Lesion of Membranous Glomerulonephritis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the glomerular capillaries due to the deposition of immune complexes and subsequent thickening of the glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


name: Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis

description: Nephrotic syndrome within the first three months of life, characterized by scarring of the glomerulus, in which only part of the glomerulus is involved, and less than 50% of the glomeruli are affected.


Ischemic nephropathy

description: Nephropathy due to hypoperfusion of the kidney.


name: Nephrotic Syndrome - Frequently Relapsing

description: Nephrotic syndrome in which there is relapse occurring two or more times in the first six months, or four or more times in a year.


name: Nephrotic Syndrome - Infrequently Relapsing

description: Nephrotic syndrome in which there is a relapse occurring less than twice in the first six months, or less than four times in a year.


name: Nephrotic Syndrome - Hepatitis B Virus Associated

description: Nephrotic syndrome associated with hepatitis B.


Arterionephrosclerosis

description: Scarring and atrophy of the renal cortex that occurs in hypertensive patients and in old age.


Nephropathy due to Cisplatin

description: Kidney damage resulting from cisplatin.


description: Membranous nephropathy associated with infectious disease.


Renal transplant rejection

description: A sudden immune response occurring after transplantation, directed against donor kidney alloantigens.


Acute humoral allograft nephropathy

description: A sudden onset of B-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens.


name: Nephropathy Associated with Rhabdomyolysis

description: Nephropathy associated with rhabdomyolysis.


IgA Nephropathy, Infection-associated

description: IgA nephropathy co-occurring with infectious disease.


Nephrotic Syndrome - LAMB2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the LAMB2 gene.


name: Primary Focal Segmental Glomerulosclerosis

description: Focal scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. The condition is considered primary in cases for which no underlying cause has been identified.


Nephropathy due to Analgesic Drugs

description: Kidney damage resulting from analgesic drugs.


Complex renal cyst

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

description: A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.


name: Nephrotic Syndrome - Cytomegalovirus Associated

description: Nephrotic syndrome associated with a cytomegalovirus infection.


Tip Lesion Glomerulopathy

description: Segmental glomerulopathy of localized intracapillary foam cells with adjacent, often vacuolated glomerular epithelial cells confluent to the origin of the proximal tubule.


Bone Marrow Transplantation Nephropathy

description: Kidney dysfunction resulting from complications of bone marrow transplantation.


Schistosomiasis Nephropathy

description: Kidney disease associated with Schistosoma infection. Injury to the kidney may be a result of immunologically mediated glomerular or interstitial injury and/or a result of reflux nephropathy.


Chronic kidney disease stage 3A

description: Long-standing and persistent renal disease with glomerular filtration rate (GFR) between 45-59 ml/min.


acute diffuse glomerulonephritis

description: An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure.


name: Secondary focal segmental glomerulosclerosis

description: Focal segmental glomerulosclerosis due to another medical condition.


Bisphosphonate - Induced Nephropathy

description: Kidney damage resulting from exposure to bisphosphonates.


Stage 2 chronic kidney disease

description: A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).


Nephrotic Syndrome - DGKE Associated

description: Nephrotic syndrome attributed to mutation(s) in the DGKE gene.


Nephrotic Syndrome - TRPC6 Associated

description: Nephrotic syndrome attributed to mutation(s) in the TRPC6 gene.


nephronophthisis 1

description: Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.


Calcineurin Nephrotoxicity

description: Kidney injury caused by calcineurin inhibitor immunosuppressive therapy which may lead to diminished kidney function.


Primary Collapsing Glomerulopathy

description: Collapsing glomerulopathy for which no underlying cause has been identified.


Nephrotic Syndrome - LMX1B Associated

description: Nephrotic syndrome attributed to mutation(s) in the LMX1B gene.


Drug-induced Nephropathy

description: Kidney damage resulting from exposure to drugs.


name: Congenital Nephrotic Syndrome - Treponema Pallidum Associated

description: Nephrotic syndrome associated with syphilis, most commonly presenting in the first three months of life.


Radiation Nephropathy

description: Tissue damage to the glomerulus and renal tubules resulting from irradiation, which is characterized by vascular endothelial damage, mesangial damage, platelet aggregation in the capillary loops, thickening of the glomerular arteriolar intimal layer, and atrophic tubules.


name: Focal Segmental Glomerulosclerosis Collapsing Variant

description: A variant of FSGS characterized by glomerular tuft collapse, which may result in scarring. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


name: Focal Segmental Glomerulosclerosis Cellular Variant

description: A variant of FSGS characterized by hypercellularity of the glomerulus; this excludes the tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


name: Membranous Nephropathy - Drug Associated

description: Membranous nephropathy associated with exposure to a drug.


name: Focal AND segmental proliferative glomerulonephritis

description: Glomerulonephritis characterized by proliferation of endothelial or mesangial cells, affecting the glomeruli in a focal and segmental pattern.


Multiple glomerular cysts

description: The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.


name: Chronic glomerulonephritis with lesion of proliferative glomerulonephritis

description: A slowly progressive inflammation of the glomeruli occurring status post infection with streptococcus.


exudative glomerulonephritis

description: Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes.


Nephrotic Syndrome - PLCE1 Associated

description: Nephrotic syndrome attributed to mutation(s) in the PLCE1 gene.


Membranous Nephropathy - Secondary

description: Membranous nephropathy due to another medical condition.


Nephrotic Syndrome - Relapse

description: Nephrotic syndrome characterized by recurrent proteinuria by dipstick of first morning urine: 2+ or greater for three days or longer, or the presence of edema with proteinuria of any duration following a remission.


Nephrotic Syndrome - ACTN4 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ACTN4 gene.


name: Proliferative Glomerulonephritis with Monoclonal IgG Deposits

description: A sub-type of monoclonal gammopathy of renal significance, characterized by restriction to a single immunoglobulin G heavy chain subclass and a single light chain isotype. Light microscopy often shows an endocapillary proliferative or membranoproliferative glomerulopathy. Electron microscopy reveals electron-dense subendothelial and mesangial deposits.


name: Nephrotic Syndrome with Lesion of Hypocomplementemic Glomerulonephritis

description: Nephrotic syndrome caused by glomerulonephritis associated with complement deficiency. It can result from an acute post-infectious glomerulonephritis, membranoproliferative glomerulonephritis or lupus glomerulonephritis.


Prevalent Nephrotic Syndrome

description: Pre-existing nephrotic syndrome.


Antimicrobial - Induced Nephropathy

description: Kidney damage resulting from exposure to antimicrobials.


Chronic Kidney Disease, Stage 0

description: Long-standing and persistent renal disease without kidney damage.


name: IgA nephropathy associated with liver disease

description: IgA nephropathy secondary to hepatobiliary disease.


name: Nephrotic Syndrome - Parvovirus B19 Associated

description: Nephrotic syndrome associated with a parvovirus B19 infection.


Nephrotic Syndrome - MEFV Associated

description: Nephrotic syndrome attributed to mutation(s) in the MEFV gene.


name: Nephrotic Syndrome - Epstein-Barr Virus Associated

description: Nephrotic syndrome associated with Epstein-Barr infection.


Nephropathy due to Amphotericin

description: Kidney damage resulting from amphotericin.


Nephrotic Syndrome - NEIL1 Associated

description: Nephrotic syndrome attributed to mutation(s) in the NEIL1 gene.


name: congenital nephrotic syndrome, Finnish type

description: Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life.


name: Pauci-Immune Glomerulonephritis - ANCA Negative

description: Glomerulonephritis with paucity of glomerular staining for immunoglobulins that may be accompanied by systemic, small vessel vasculitis containing no anti neutrophil cytoplasm antibody (ANCA).


Nephrotic Syndrome - COQ6 Associated

description: Nephrotic syndrome attributed to mutation(s) in the COQ6 gene.


oligomeganephronia

description: Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.


Simple renal cyst

description: An isolated cyst of the kidney.


medullary sponge kidney

description: Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.


name: Nephrotic Syndrome-Remission, Partial Remission

description: Nephrotic syndrome in which proteinuria has decreased by at least 50% and below the nephrotic range cutoff from disease onset, but does not normalize following a defined course of treatment.


description: Glomerulonephritis characterized by endocapillary proliferation and the presence of inflammatory cells affecting 50% or more of all glomeruli.


name: Nephrotic Syndrome - Hepatitis C Virus Associated

description: Nephrotic syndrome associated with a hepatitis C infection.


name: Focal Segmental Glomerulosclerosis, Not Otherwise Specified

description: Segmental scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. Additionally, the Not Otherwise Specified classification excludes FSGS tip, perihilar, collapsing, and cellular variants. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


Nephrotic Syndrome - WT1 Associated

description: Nephrotic syndrome attributed to mutation(s) in the WT1 gene.


Nephrotic Syndrome - SCARB2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the SCARB2 gene.


name: Nephrotic Syndrome with Lesion of Endothelial Glomerulonephritis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the endovascular lining of the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Infundibular Stenosis

description: Narrowing of the infundibulum to the calyx, which produces an impediment to urine flow.


Collapsing glomerulopathy

description: Segmental or global glomerulopathy with tuft wrinkling, collapse and contraction without increased matrix or cells, but with adjacent podocyte hypertrophy and hyperplasia.


Membranous Nephropathy - NEP Induced

description: Membranous nephropathy due to neural endopeptidase (NEP) antibodies.


name: Congenital Nephrotic Syndrome - Infection Associated

description: Nephrotic syndrome presenting within the first three months of life, and which is associated with an infectious process.


subacute glomerulonephritis

description: A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis.


name: Type I Cryoglobulinemic Glomerulonephritis

description: Glomerulonephritis caused by cryoglobulins which are composed of monoclonal immunoglobulins IgG, IgA, or IgM. It occurs in patients with lymphoproliferative disorders.


Membranous Nephropathy - PLA2R Induced

description: Membranous nephropathy due to phospholipase 2 receptor (PLA2R) antibodies.


name: Focal Segmental Glomerulosclerosis Tip Lesion Variant

description: A variant of FSGS characterized by scarring of the glomerulus adjacent to the origin of the proximal convoluted tubule; this occurs in the absence of collapsing and perihilar FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


Nephropathy caused by heavy metals

description: Damage to the kidney and renal tubules resulting from heavy metal exposure.


Nephrotic Syndrome - ITGB4 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ITGB4 gene.


name: Focal Segmental Glomerulosclerosis Perihilar Variant

description: A variant of FSGS characterized by scarring of the glomerulus where at least 50% of the scars are adjacent to the hilum and must have hyalinosis; this excludes cellular, tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.)


COVID-19-Associated Acute Kidney Injury

description: Acute kidney injury caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).


mTOR Inhibitor - Induced Nephropathy

description: Kidney damage resulting from exposure to mechanistic target of rapamycin (mTOR) kinase inhibitors.


name: Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction of the glomerular capillaries due to the proliferation of mesangial cells, expansion of the mesangial matrix and deposition of immune complexes causing subsequent thickening of the glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Nephrotic Syndrome - PTPRO Associated

description: Nephrotic syndrome attributed to mutation(s) in the PTPRO gene.


focal embolic glomerulonephritis

description: Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia.


name: Pauci-Immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis

description: Glomerulonephritis in the context of eosinophilic-rich granulomatosis with polyangiitis, eosinophilia, asthma and commonly anti-neutrophil cytoplasmic antibody.


Sickle cell nephropathy

description: Nephropathy secondary to sickle cell disease, characterized by the presence of sickled erythrocytes in the renal medullary vessels, renal ischemia and microinfarctions, renal papillary necrosis, and renal tubular abnormalities.


Nephrotic Syndrome - Malaria Associated

description: Nephrotic syndrome associated with malaria.


name: Nephrotic Syndrome with Lesion of Segmental Hyalinosis

description: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the filtering capillaries and the deposition of plasma components between the endothelium and glomerular basement membrane. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Incident Nephrotic Syndrome

description: New onset nephrotic syndrome.


Nephritic syndrome

description: A syndrome characterized by hematuria with dysmorphic red blood cells, red blood cell casts, and proteinuria; systemic manifestations may be present, including hypertension, edema, oliguria.


name: sessile serrated polyposis cancer syndrome


digestive system disorder

description: A disease or disorder that involves the digestive system.


name: pancreatic delta cell neuroendocrine tumor

description: A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning).


colon Kaposi sarcoma

description: A Kaposi sarcoma arising from the colon.


inflammatory bowel disease 6

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13.


name: extrahepatic bile duct adenosquamous carcinoma

description: A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.


polycystic liver disease 1

description: A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.


name: membranous obstruction of inferior vena cava


anal canal adenocarcinoma

description: An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding.


anus disorder

description: A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma.


polyp of gallbladder

description: A polyp that involves the gall bladder.


name: carcinoma of esophagus, salivary gland type


gallbladder adenosquamous carcinoma

description: A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.


name: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

description: Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.


pyloric gland adenoma

description: A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed.


name: hereditary neuroendocrine tumor of small intestine

description: An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.


name: small intestinal neuroendocrine tumor G1

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


name: classic neuroendocrine tumor of appendix

description: Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.


pancreatic lymphoma, familial

description: An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome.


inflammatory bowel disease 19

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


carcinoma in situ of fundus of stomach

description: A in situ carcinoma that involves the fundus of stomach.


name: diabetes mellitus, noninsulin-dependent, 5

description: Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.


congenital malabsorptive diarrhea 4

description: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.


duodenal disorder

description: Pathological conditions in the duodenum region of the small intestine (intestine, small).


name: carcinoma of stomach, salivary gland type


name: cholestasis, progressive familial intrahepatic, 6


colorectal lipoma

description: A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum.


name: digestive system neuroendocrine tumor, grade 1/2

description: A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.


bile duct cystadenoma

description: An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid.


name: pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia

description: A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures.


gastrointestinal tuberculosis

description: Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area.


name: pancreatic acinar cell cystadenocarcinoma

description: A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course.


liver leiomyosarcoma

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


oral cavity carcinoma in situ

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


hepatic flexure cancer

description: A malignant neoplasm involving the hepatic flexure of colon.


name: maturity-onset diabetes of the young type 14

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.


common bile duct neoplasm

description: Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi.


colorectal medullary carcinoma

description: A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.


laryngotracheoesophageal cleft type 2

description: Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.


name: maturity-onset diabetes of the young type 9

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.


name: autoimmune disorder of gastrointestinal tract

description: A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.


gastric papillary adenocarcinoma

description: A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.


congenital sodium diarrhea

description: Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.


accessory pancreas

description: Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.


atresia of small intestine

description: Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases.


uvula cancer

description: A malignant neoplasm involving the palatine uvula.


colorectal juvenile polyp

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


inflammatory bowel disease 11

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.


ascending cholangitis

description: Acute infection of the bile ducts caused by bacteria ascending from the small intestine.


biliary tract neoplasm

description: A neoplasm that involves the biliary tract.


rectal disorder

description: A disease that involves the rectum.


name: pyloric stenosis, infantile hypertrophic, 1


polyposis syndrome, hereditary mixed, 2

description: Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.


colon sessile serrated adenoma/polyp

description: A polyp that arises from the colon. 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 colonic adenocarcinomas with microsatellite instability.


anal margin carcinoma

description: A carcinoma that arises from epithelial cells of the perianal skin


Waldeyer's ring cancer

description: A malignant neoplasm involving the tonsillar ring.


ketamine-induced biliary dilatation

description: Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.


Lynch syndrome 5

description: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene.


adenosquamous bile duct carcinoma

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


intestine carcinoma in situ

description: A carcinoma in situ involving a intestine.


description: Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.


name: diarrhea 10, protein-losing enteropathy type


name: malignant neoplasm of thoracic esophagus

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


name: colon small cell neuroendocrine carcinoma

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


pericholangitis

description: Inflammation of the tissue surrounding the biliary ducts.


peptic ulcer perforation

description: Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity.


name: congenital enterocyte heparan sulfate deficiency

description: Congenital enterocyte heparan sulfate deficiency is characterized by massive enteric protein loss, secretory diarrhea, and intolerance to enteral feeds during the first few weeks of life.


gallbladder leiomyoma

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


anal polyp

description: A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.


small intestine diverticulitis

description: A diverticulitis that involves the small intestine.


mucinous pancreas adenocarcinoma

description: A pancreatic adenocarcinoma that derives from epithelial cells originating in glandular tissue, which produce mucin.


name: calcifying nested epithelial stromal tumor of the liver

description: A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present.


esophageal basaloid carcinoma

description: A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)


chronic cholangitis

description: Cholangitis that is persistent and long-standing.


appendix villous adenoma

description: An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.


name: polycystic liver disease 3 with or without kidney cysts

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.


jejunal cancer

description: A malignant neoplasm involving the jejunum.


name: primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome


description: Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.


name: extrahepatic bile duct papillary adenoma

description: An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern.


esophageal neuroendocrine tumor

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


name: colorectal gastrointestinal stromal tumor

description: A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course.


postgastrectomy syndrome

description: Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies.


name: perinatal jaundice due to hepatocellular damage

description: Jaundice in perinates due to cellular damage of liver.


name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

description: Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988.


extrahepatic bile duct leiomyoma

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


liver extraskeletal osteosarcoma

description: An osteosarcoma arising from the liver.


name: intractable diarrhea-choanal atresia-eye anomalies syndrome

description: Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously.


colon Burkitt lymphoma

description: A rare Burkitt lymphoma that arises from the colon.


familial intrahepatic cholestasis

description: An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.


gallbladder papillary neoplasm

description: A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present.


gallbladder rhabdomyosarcoma

description: A rhabdomyosarcoma that is located in the gallbladder.


cecum lymphoma

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


name: functional pancreatic neuroendocrine tumor

description: A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.


name: autosomal recessive hyperinsulinism due to Kir6.2 deficiency


aryepiglottic fold cancer

description: A malignant neoplasm involving the aryepiglottic fold.


name: pancreatic gastrin-producing neuroendocrine tumor

description: A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome.


name: extrahepatic bile duct small cell adenocarcinoma

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


colorectal tubulovillous adenoma

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


benign neoplasm of exocrine pancreas

description: A benign neoplasm that involves the exocrine pancreas.


pancreatic gastrinoma

description: A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption.


name: hyperinsulinism due to glucokinase deficiency

description: Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.


description: Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine.


secondary intestinal lymphangiectasia

description: Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.


carcinoma in situ of cecum

description: A in situ carcinoma that involves the caecum.


benign neoplasm of gallbladder

description: A benign neoplasm that involves the gall bladder.


colloid carcinoma of the pancreas

description: An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei.


name: papillary extrahepatic bile duct adenocarcinoma


non-neoplastic bile duct disorder

description: A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia.


carcinoma of floor of mouth

description: A carcinoma that involves the mouth floor.


name: ampulla of vater clear cell adenocarcinoma

description: A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei.


name: gallbladder pleomorphic giant cell adenocarcinoma


name: cystic fibrosis associated meconium ileus

description: Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis.


biliary cystadenocarcinoma

description: A cystadenocarcinoma that involves the biliary tree.


name: cholestasis, progressive familial intrahepatic, 9


inflammatory bowel disease 12

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


inflammatory pseudotumor of the liver

description: Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion.


name: adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia

description: Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism 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


benign neoplasm of small intestine

description: A benign neoplasm that involves the small intestine.


name: submucosal invasive colon adenocarcinoma

description: An adenocarcinoma of the colon that has invaded into the submucosa.


lactose intolerance adult type

description: Adult onset lactose intolerance


name: congenital sucrase-isomaltase deficiency without sucrose intolerance


name: small intestinal diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that arises from the small intestine.


name: Rokitansky-Aschoff sinuses of the gallbladder

description: An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones.


autoimmune pancreatitis type 1

description: Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.


rectal traditional serrated adenoma

description: An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia.


ascending colon neuroendocrine tumor G1

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


salivary gland adenosquamous carcinoma

description: A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component.


duodenal obstruction

description: Blockage of the normal flow of stomach contents through the duodenum.


Crohn disease of the esophagus

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


name: metabolic dysfunction and alcohol associated liver disease

description: A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors.


ileum cancer

description: A malignant neoplasm involving the ileum


name: biliary atresia intrahepatic non syndromic form


name: visceral neuropathy, familial, 1, autosomal recessive

description: A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.


familial visceral myopathy

description: A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.


bile duct sarcoma

description: A sarcoma that involves the bile duct.


description: This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.


biliary tract disorder

description: A disease involving the biliary tree.


laryngotracheoesophageal cleft

description: A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.


GRFoma

description: 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1).


name: developmental delay, epilepsy, and neonatal diabetes 2


salivary gland mucinous adenocarcinoma

description: A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found.


sclerosing hepatic carcinoma

description: An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae.


villous adenoma of colon

description: A villous adenoma that involves the colon.


intestinal neuroendocrine tumor G1

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


name: adenocarcinoma of gallbladder and extrahepatic biliary tract

description: Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.


name: ampullary signet ring cell adenocarcinoma

description: An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells.


adenosquamous colon carcinoma

description: An unusual colon 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.


inflammatory bowel disease 25

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.


gastric body carcinoma

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


fibroepithelial polyp of the anus

description: A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium.


benign neoplasm of cecum

description: A benign neoplasm that involves the caecum.


occlusion of gallbladder

description: Blockage of the normal flow of the contents of the gallbladder.


malignant tumor of minor salivary gland

description: A cancer that involves the minor salivary gland.


anal verrucous carcinoma

description: A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma.


oral cavity mucoepidermoid carcinoma

description: A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination.


focal nodular hyperplasia

description: A benign tumor of the liver, characterized by hyperplastic growth of hepatocytes and a central fibrovascular scar.


extrahepatic bile duct sarcoma

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


description: A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.


liver leiomyoma

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


anorectal stricture

description: Narrowing of the anorectum associated with inflammation or scar tissue.


perforation of bile duct

description: A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes.


intestinal polyp

description: Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.


gallbladder angiosarcoma

description: An angiosarcoma that is located in the gallbladder.


benign neoplasm of stomach

description: A benign neoplasm that involves the stomach.


protozoal dysentery

description: A dysentery that involves protozoan infection.


benign neoplasm of pancreas

description: A benign neoplasm that involves the pancreas.


minor salivary gland carcinoma

description: A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma.


islet cell adenomatosis

description: A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.


tropical sprue

description: A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common.


salivary gland large cell carcinoma

description: A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass.


description: Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the esophagus, with or without persistent communication with the trachea.


name: hyperinsulinemic hypoglycemia, familial, 2

description: Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.


carcinoma in situ of gastric body

description: A in situ carcinoma that involves the body of stomach.


name: pancreatic triacylglycerol lipase deficiency

description: An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.


name: extrahepatic bile duct mucinous adenocarcinoma

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


colon leiomyoma

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


gastric mantle cell lymphoma

description: A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course.


achalasia, familial esophageal

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


squamous cell bile duct carcinoma

description: A squamous cell carcinoma that involves the bile duct.


gallbladder melanoma

description: A melanoma that arises from the gallbladder.


name: polycystic liver disease 4 with or without kidney cysts

description: An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.


collagenous sprue

description: A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal.


esophagus leiomyosarcoma

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


anus rhabdomyosarcoma

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


levator syndrome

description: Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms.


anus leiomyoma

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


name: cholestasis, progressive familial intrahepatic, 10


acquired hypertrophic pyloric stenosis

description: An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual.


congenital diarrhea 6

description: Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.


description: Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.


name: combined pancreatic lipase-colipase deficiency

description: A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.


name: maturity-onset diabetes of the young type 7

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene.


Chilaiditi syndrome

description: Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition.


splenic flexure cancer

description: A malignant neoplasm involving the splenic flexure of colon.


malignant gastric germ cell tumor

description: A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma.


name: early-onset familial noncirrhotic portal hypertension


name: embryonal extrahepatic bile duct rhabdomyosarcoma

description: An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.


oral Crohn disease

description: Crohn's disease affecting the mouth.


pancreatic serous cystic neoplasm

description: A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma.


description: Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.


name: congenital sucrase-isomaltase deficiency with starch intolerance


ileal neoplasm

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


small intestine lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine.


rectal adenosquamous carcinoma

description: An unusual rectal 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.


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 4


gastric pylorus carcinoma

description: A carcinoma that arises from the pylorus.


inflammatory bowel disease 4

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12.


inflammatory bowel disease 8

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 16p.


name: pancreatic non-functioning delta cell tumor

description: A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome.


name: pyloric stenosis, infantile hypertrophic, 5


name: gallbladder signet ring cell adenocarcinoma

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


tonsillar pillar cancer

description: A cancer that involves the tonsillar pillar.


mucinous gastric adenocarcinoma

description: A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools.


taeniasis

description: A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea.


appendix lymphoma

description: A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare.


hepatic tuberculosis

description: Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests.


intrahepatic bile duct adenoma

description: A rare adenoma that arises from the intrahepatic biliary tree.


rectosigmoid junction cancer

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


autosomal erythropoietic protoporphyria

description: Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.


name: POLE-related polyposis and colorectal cancer syndrome

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


pancreatic serous cystadenocarcinoma

description: A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain.


anus sarcoma

description: A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma.


exercise-induced hyperinsulinism

description: Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.


duodenal somatostatinoma

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


pancreatic mucinous cystadenoma

description: A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass.


neuroendocrine tumor of the anal canal

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


name: metastasis from malignant tumor of colon


postcricoid region cancer

description: A primary or metastatic malignant neoplasm that affects the postcricoid region.


benign neoplasm of oropharynx

description: A benign neoplasm that involves the oropharynx.


solitary necrotic nodule of the liver

description: Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.


gastric teratoma

description: A mature or immature teratoma that arises from the stomach.


name: cryptogenic multifocal ulcerous stenosing enteritis


name: extrahepatic bile duct clear cell adenocarcinoma

description: A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells.


hyperinsulinism due to HNF1A deficiency

description: Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.


epithelial tumor of colon

description: A epithelial neoplasm that involves the colon.


name: diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency


name: duodenal neuroendocrine tumor, well differentiated, low or intermediate grade

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


name: inflammatory skin and bowel disease, neonatal, 2

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


intestinal perforation

description: A rupture in the wall of the small or large intestine due to traumatic or pathologic processes.


name: diarrheal disease secondary to altered bowel motility

description: A diarrhea that results from either increased or decreased motility in the bowel.


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

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


rectal tubulovillous adenoma

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


oral tuberculosis

description: Tuberculosis of the mouth, tongue, and salivary glands.


dientamoebiasis

description: Gastrointestinal infection with organisms of the genus dientamoeba.


name: gastric enterochromaffin cell serotonin-producing neuroendocrine tumor

description: A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome.


inflammatory bowel disease 22

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2.


laryngotracheoesophageal cleft type 3

description: Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.


name: maturity-onset diabetes of the young type 8

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


autoimmune hepatitis type 3

description: Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens.


name: cholestasis, progressive familial intrahepatic, 12


bile reflux

description: Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas.


afferent loop syndrome

description: A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid.


colon neuroendocrine tumor G1

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


major salivary gland cancer

description: A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.


name: carcinoma of gallbladder and extrahepatic biliary tract

description: Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.


mature gastric teratoma

description: A benign teratoma that arises from the stomach.


trichohepatoenteric syndrome 1

description: Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.


carcinoma in situ of gastric cardia

description: A in situ carcinoma that involves the cardia of stomach.


neurofibroma of the esophagus

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


benign insulitis

description: A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation.


gastric tubular adenocarcinoma

description: A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.


colon inflammatory polyp

description: A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis.


jaw cancer

description: A malignant neoplasm involving the jaw skeleton


name: maturity-onset diabetes of the young type 10

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


cholelithiasis

description: The presence of calculi in the gallbladder.


secondary short bowel syndrome

description: Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.


angiodysplasia of intestine

description: A angiodysplasia that involves the intestine.


retromolar area cancer

description: A malignant form of neoplasm of retromolar area.


colorectal serrated adenocarcinoma

description: A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture.


granulomatous gastritis

description: Gastritis that is associated with the presence of granulomas.


appendix neuroendocrine tumor G1

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


colon medullary carcinoma

description: A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.


minor salivary gland adenocarcinoma

description: An adenocarcinoma that arises from the minor salivary glands.


gall bladder carcinoma in situ

description: A carcinoma in situ involving a gall bladder.


polycystic liver disease 2

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.


rectal medullary carcinoma

description: A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.


permanent neonatal diabetes mellitus 1

description: A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.


name: cholestasis, progressive familial intrahepatic, 7, with or without hearing loss


inflammatory bowel disease 20

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24.


name: TRIM22-related inflammatory bowel disease

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene.


duodenal villous adenoma

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


name: malignant neoplasm of cervical esophagus

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


inflammatory bowel disease 17

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene.


name: maxillary sinus adenoid cystic carcinoma

description: An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course.


name: diabetes mellitus, transient neonatal, 2

description: Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.


megaesophagus

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


inherited hypertrophic pyloric stenosis

description: An instance of hypertrophic pyloric stenosis that is inherited.


pancreatic neuroendocrine tumor G1

description: A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%.


name: cholestasis, progressive familial intrahepatic, 11


name: cholestasis, progressive familial intrahepatic, 4

description: Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.


pancreas sarcoma

description: A rare malignant soft tissue neoplasm that occurs primarily in the pancreas.


bacterial esophagitis

description: An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations.


benign neoplasm of esophagus

description: A benign neoplasm that involves the esophagus.


name: cholestasis, intrahepatic, of pregnancy, 3


name: carcinoma in situ of extrahepatic bile duct

description: A in situ carcinoma that involves the extrahepatic bile duct.


appendix mucinous cystadenocarcinoma

description: An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures.


cavernous hemangioma of colon

description: A cavernous hemangioma arising from the colon.


name: ileal neuroendocrine tumor, well differentiated, low or intermediate grade

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


rectal prolapse

description: Protrusion of the rectum through the anus.


congenital secretory sodium diarrhea 3

description: Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.


name: diarrheal disease secondary to increased bowel motility

description: A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease.


perianal skin Paget disease

description: Paget disease involving the perianal skin.


parasitic intestinal disorder

description: Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS.


periampullary adenoma

description: A adenoma that involves the periampullary region of duodenum.


malignant gastric granular cell tumor

description: A metastasizing granular cell tumor that arises from the stomach.


name: pyloric stenosis, infantile hypertrophic, 2


inflammatory bowel disease 7

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36.


esophageal duplication cyst

description: A rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.


colorectal hamartoma

description: A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp.


name: neonatal ichthyosis-sclerosing cholangitis syndrome

description: Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.


name: glycogen storage disease due to liver phosphorylase kinase deficiency

description: A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.


hyperinsulinism due to UCP2 deficiency

description: HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.


name: nephropathy, progressive tubulointerstitial, with cholestatic liver disease


variegate porphyria

description: Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.


follicular cholangitis and pancreatitis

description: Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.


mucoepidermoid esophageal carcinoma

description: A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)


common bile duct disorder

description: A disease involving the common bile duct.


benign neoplasm of anus

description: A benign neoplasm that involves the anus.


anal canal Paget disease

description: Paget disease involving the squamous epithelium of the anal canal.


autoimmune pancreatitis type 2

description: Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.


extrahepatic bile duct lipoma

description: A rare benign adipose tissue neoplasm of the extrahepatic bile duct.


name: CTNNA1-related diffuse gastric and lobular breast cancer syndrome

description: Germline pathogenic or likely pathogenic variants in the CTNNA1 gene predispose to hereditary diffuse gastric cancer and lobular breast cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern.


name: pancreatic ACTH-producing neuroendocrine tumor

description: A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor.


SEC61B-related polycystic liver disease

description: Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene.


name: benign recurrent intrahepatic cholestasis type 2


name: colorectal cancer, hereditary nonpolyposis, type 6

description: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene.


oropharyngeal anthrax

description: A anthrax infection that involves the oropharynx.


Waardenburg-Shah syndrome

description: Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.


Haddad syndrome

description: Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.


name: maturity-onset diabetes of the young type 11

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


name: Alagille syndrome due to a JAG1 point mutation


rectum leiomyoma

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


name: squamous cell carcinoma of gallbladder and extrahepatic biliary tract

description: Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.


pyloric antrum cancer

description: A malignant neoplasm involving the pyloric antrum.


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 2


name: Alagille syndrome due to a NOTCH2 point mutation


Lynch syndrome 8

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


isolated agenesis of gallbladder

description: A developmental defect in which the gallbladder fails to form.


chronic diarrhea with villous atrophy

description: Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.


anal fistula

description: A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess.


soft palate cancer

description: A primary or metastatic malignant neoplasm that affects the soft palate.


lower gum cancer

description: A cancer involving a gingiva of lower jaw.


name: ampulla of vater squamous cell carcinoma

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


esophageal varices

description: Abnormally dilated veins of the esophagus.


name: developmental delay, epilepsy, and neonatal diabetes 1


anus basaloid carcinoma

description: An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading.


name: transient infantile hypertriglyceridemia and hepatosteatosis


Goldberg-Shprintzen syndrome

description: A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.


small intestine leiomyoma

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


name: cholestasis, intrahepatic, of pregnancy, 1


liver rhabdomyosarcoma

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


tonsillar lymphoma

description: A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas.


gallbladder leiomyosarcoma

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


gastrojejunal ulcer

description: Evidence of an acute gastrojejunal ulcer with hemorrhage.


name: salivary gland epithelial myoepithelial carcinoma

description: A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells.


esophageal diverticulosis

description: A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus.


name: pancreatic carcinoma with mixed differentiation

description: A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss.


glycogen storage disease IXc

description: A liver PhK deficiency caused by variants in the PHKG2 gene


name: jejunal neuroendocrine tumor, well differentiated, low or intermediate grade

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


hepatocellular clear cell carcinoma

description: A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells.


extrahepatic cholestasis

description: Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver.


rectum Kaposi sarcoma

description: A Kaposi sarcoma arising from the rectum.


name: undifferentiated pancreatic carcinoma with osteoclast-like giant cells

description: A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells.


laryngotracheoesophageal cleft type 1

description: Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.


epithelial neoplasm of rectum

description: A epithelial neoplasm that involves the rectum.


name: ampulla of vater small cell neuroendocrine carcinoma

description: An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.


name: pyloric stenosis, infantile hypertrophic, 3


name: autosomal dominant hyperinsulinism due to SUR1 deficiency

description: Autosomal dominant hyperinsulinism due to SUR1 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. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).


fungal gastritis

description: Gastritis resulting from fungi.


name: hepatic veno-occlusive disease-immunodeficiency syndrome

description: Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.


esophageal granular cell tumor

description: A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003


name: sublingual gland adenoid cystic carcinoma

description: A adenoid cystic carcinoma that involves the sublingual gland.


intrahepatic bile duct cystadenoma

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


name: pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia

description: A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present.


anal Paget disease

description: A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO).


congenital secretory sodium diarrhea 8

description: Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.


carcinoma in situ of appendix

description: A in situ carcinoma that involves the vermiform appendix.


esophageal tuberculosis

description: A tuberculosis that involves the esophagus.