name: Epstein-Barr virus-associated gastric carcinoma

description: Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.


negative regulation of B cell deletion

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

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell deletion.


regulation of B cell anergy

description: Any process that modulates the frequency, rate, or extent of B cell anergy.


regulation of central B cell anergy

description: Any process that modulates the frequency, rate, or extent of central B cell anergy.


name: positive regulation of peripheral B cell anergy

description: Any process that activates or increases the frequency, rate, or extent of peripheral B cell anergy.


name: negative regulation of central B cell deletion

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of central B cell deletion.


name: negative regulation of central B cell tolerance induction

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of central B cell tolerance induction.


name: negative regulation of peripheral B cell anergy

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of peripheral B cell anergy.


regulation of peripheral B cell anergy

description: Any process that modulates the frequency, rate, or extent of peripheral B cell anergy.


name: negative regulation of B cell tolerance induction

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell tolerance induction.


name: negative regulation of central B cell anergy

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of central B cell anergy.


negative regulation of B cell anergy

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell anergy.


positive regulation of B cell anergy

description: Any process that activates or increases the frequency, rate, or extent of B cell anergy.


name: positive regulation of central B cell tolerance induction

description: Any process that activates or increases the frequency, rate, or extent of central B cell tolerance induction.


name: regulation of peripheral B cell deletion

description: Any process that modulates the frequency, rate, or extent of peripheral B cell deletion.


name: positive regulation of central B cell anergy

description: Any process that activates or increases the frequency, rate, or extent of central B cell anergy.


name: positive regulation of peripheral B cell deletion

description: Any process that activates or increases the frequency, rate, or extent of peripheral B cell deletion.


regulation of B cell deletion

description: Any process that modulates the frequency, rate, or extent of B cell deletion.


regulation of central B cell deletion

description: Any process that modulates the frequency, rate, or extent of central B cell deletion.


positive regulation of B cell deletion

description: Any process that activates or increases the frequency, rate, or extent of B cell deletion.


name: negative regulation of peripheral B cell deletion

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of peripheral B cell deletion.


name: regulation of central B cell tolerance induction

description: Any process that modulates the frequency, rate, or extent of central B cell tolerance induction.


name: positive regulation of central B cell deletion

description: Any process that activates or increases the frequency, rate, or extent of central B cell deletion.


leukocyte adhesion deficiency 3

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

description: Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.


meningeal artery

category: biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: One of the arteries supplying a meninix[Automatically generated definition].


middle meningeal artery

description: The middle meningeal artery is typically the third branch of the first part (retromandibular part) of the maxillary artery; one of the two terminal branches of the external carotid artery. After branching off the maxillary artery in the infratemporal fossa, it runs through the foramen spinosum to supply the dura mater and the calvaria. The middle meningeal artery is the largest of the three (paired) arteries which supply the meninges, the others being the anterior meningeal artery and the posterior meningeal artery. In approximately half of subjects it branches into an accessory meningeal artery. The middle meningeal artery runs beneath the pterion. It is vulnerable to injury at this point, where the skull is thin. Rupture of the artery may give rise to an epidural hematoma.


anterior meningeal artery

description: A meningeal branch to the dura mater arising from the anterior ethmoidal artery.


name: Low Grade Pancreatic Intraepithelial Neoplasia

description: Pancreatic intraepithelial neoplasia characterized by the presence of low grade epithelial dysplasia.


Pancreatic Intraepithelial Neoplasia-1A

description: A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form flat architectural patterns.  Mild cytological atypia is present.


Moderate pancreatic duct dysplasia

description: A pancreatic mucinous intraepithelial neoplasia characterized by the presence of papillary and less often flat architectural patterns.  Moderate cytological atypia is present with some loss of nuclear polarity, nuclear crowding or hyperchromatism.


Pancreatic Intraepithelial Neoplasia-1B

description: A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form papillary, micropapillary, or basally pseudostratified architectural patterns.  Mild cytological atypia is present.


Pancreatic Intraepithelial Neoplasia-1

description: A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form flat or papillary, micropapillary, and basally pseudostratified architectural patterns.  Mild cytological atypia is present.


Early balding

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

description: Loss of scalp hair at an earlier than normal age.


Erectile dysfunction

description: A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.


Autonomic erectile dysfunction

description: Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.


mesethmoid-premaxillary joint

description: Joint that articulates the mesethmoid and premaxilla. Mesethmoid-premaxillary joint is paired.


SmD-containing SMN-Sm protein complex

category: biolink:CellularComponent biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: An SMN-Sm protein complex formed by the association of the methylated Sm proteins B/B', D1, D2, D3, E, F, and G with the SMN complex.


name: Patient-Specific Neoantigen-Positive Malignant Solid Neoplasm

description: A malignant solid neoplasm that expresses unique tumor-specific neoantigens in a single patient.


name: Elevated circulating heptacarboxylporphyrin concentration

description: The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal.


name: sulfite reductase (coenzyme F420) activity

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

description: Catalysis of the reaction: sulfite + 3 1,5-dihydrocoenzyme F420 = hydrogen sulfide + 3 H2O + 3 coenzyme F420. 1,5-dihydrocoenzyme F420 is also known as reduced coenzyme F420.


mammary gland smooth muscle

description: A portion of smooth muscle tissue that is part of a mammary gland [Automatically generated definition].


name: negative regulation of cellular response to drug

description: Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to drug.


name: B Acute Lymphoblastic Leukemia with TCF3-HLF Rearrangement

description: An exceptionally rare childhood B-acute lymphoblastic leukemia associated with TCF3-HLF gene rearrangement resulting in the formation of TCF3-HLF chimeric transcription factor. The prognosis is poor.


name: B Acute Lymphoblastic Leukemia with HLF Rearrangement

description: An exceptionally rare childhood B-acute lymphoblastic leukemia associated with HLF gene rearrangement. The prognosis is poor.


name: B Acute Lymphoblastic Leukemia with TCF4-HLF Rearrangement

description: An exceptionally rare childhood B-acute lymphoblastic leukemia associated with TCF4-HLF gene rearrangement resulting in the formation of TCF4-HLF chimeric transcription factor. The prognosis is poor.


Retinal fold

description: A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.


name: Retinal detachments and defects, unspecified

description: An imperfection if the retina of the eye in association with detachment of the retina from its blood supply.


Retinal defect, unspecified

description: An imperfection of the retina of the eye.


rhegmatogenous retinal detachment

description: Retinal detachment secondary to retinal tear or break.


Tractional retinal detachment

description: A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.


GMP 5'-nucleotidase activity

description: Catalysis of the reaction: 5'-GMP + H2O = guanosine + phosphate.


name: chromosome 4Q32.1-q32.2 triplication syndrome


name: partial duplication of the long arm of chromosome 4

description: Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.


distal trisomy 4q

description: Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.


Chronic gouty nephropathy

description: Chronic kidney disease resulting from deposition of urate crystals or microtophi in the medullary interstitium.


Non-Neoplastic Kidney Disorder

description: A non-neoplastic disorder that affects the renal parenchyma and/or renal pelvis. Representative examples include glomerulonephritis and pyelonephritis.


Minimal mesangial lupus nephritis

description: A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence.


Nephrotic Syndrome - ADCK4 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ADCK4 gene.


multicystic dysplastic kidney

description: Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.


Nephrotic Syndrome - MYO1E Associated

description: Nephrotic syndrome attributed to mutation(s) in the MYO1E gene.


karyomegalic interstitial nephritis

description: Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.


Obesity Related Glomerulopathy

description: Diffuse glomerular (greater than 50% of glomeruli) hypertrophy (greater than 250 micron diameter) that occurs in the context of obesity.


name: tubulointerstitial kidney disease, autosomal dominant, 2

description: An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.


Proximal tubulopathy

description: Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.


Membranous Nephropathy - THSD7A Induced

description: Membranous nephropathy due to thrombospondin type-1 domain-containing protein 7A (THSD7A) antibodies.


name: Pauci-Immune Glomerulonephritis - Renal Limited

description: Glomerulonephritis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present and vasculitis is limited to the kidney.


Acute Cortical Necrosis

description: Acute kidney injury caused by ischemic necrosis of the renal cortex.


steroid-resistant nephrotic syndrome

description: Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.


end stage renal failure

description: Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.


Nephropathy due to Ciclosporin

description: Kidney damage resulting from ciclosporin.


name: Chronic kidney disease due to hypertension

description: Longstanding kidney disease as a complication of hypertension.


Stage 1 chronic kidney disease

description: A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).


name: Nephrotic Syndrome - Simian Virus 40 Associated

description: Nephrotic syndrome associated with a simian virus 40 infection.


name: Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease

description: Cryoglobulinemia glomerulonephritis associated with chronic disease, often inflammatory conditions.


Pierson syndrome

description: Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.


name: Nephrotic Syndrome - Human Immunodeficiency Virus Associated

description: Nephrotic syndrome associated with human immunodeficiency virus infection.


pyonephrosis

description: Pus within the collecting system of the kidney.


Uric acid nephropathy acute

description: Kidney damage resulting from uric acid precipitation within the renal tubules.


contrast-induced nephropathy

description: Kidney damage resulting from exposure to contrast agents.


Diffuse lupus nephritis

description: A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations.


description: Tubulointerstitial nephritis resulting from a drug exposure.


Renal Pelvis Fibroepithelial Polyp

description: A benign, mesodermal tumor located in the renal pelvis.


name: Nephrotic syndrome with lesion of proliferative 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 and expansion of the mesangial matrix. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


Reflux nephropathy (disorder)

description: Chronic kidney damage due to vesicoureteral reflux.


Nephropathy due to Tacrolimus

description: Kidney damage resulting from tacrolimus.


name: Congenital Nephrotic Syndrome - Rubivirus Associated

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


name: Nephrotic Syndrome - Infection Associated

description: Nephrotic syndrome associated with an infectious process.


Glomerular vascular disorder

description: A disorder that is caused by pathologic changes in the glomerular vasculature.


name: Nephrotic Syndrome - SMARCAL1 Associated

description: Nephrotic syndrome attributed to mutation(s) in the SMARCAL1 gene.


name: glomerulopathy with fibronectin deposits 2

description: Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene.


Nephrotic Syndrome - CFH Associated

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


Chronic glomerulonephritis

description: A chronic, persistent inflammation of the glomeruli, which is slowly progressive, leading to impaired kidney function.


name: Acute renal papillary necrosis with renal failure

description: Sudden and sustained deterioration of the kidney function with decreased glomerular filtration rate, and concommittant necrosis of the renal papillae; representative causes include sickle cell disease, heave analgesic use, diabetes mellitus, and pyelonephritis.


Nephrotic Syndrome - ITGA3 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ITGA3 gene.


name: Pauci-Immune Glomerulonephritis associated with Microscopic Polyangiitis

description: Glomerulonephritis in the context of systemic, small vessel vasculitis in which anti neutrophil cytoplasm antibody (ANCA) is almost always present.


Nephropathy due to Aminoglycosides

description: Kidney damage resulting from aminoglycosides.


description: Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure.


name: Chronic glomerulonephritis with lesion of membranous glomerulonephritis

description: A slowly progressive inflammation of the glomeruli characterized by immune complex deposits on the epithelial side of the glomerular basement membrane.


description: Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.


name: Membranous Nephropathy - Autoimmune Disorder Associated

description: Membranous nephropathy associated with an autoimmune disorder.


Nephrotic Syndrome - CRB2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the CRB2 gene.


obstructive nephropathy

description: Renal damage and impaired renal function secondary to urinary tract obstruction.


Familial immunoglobulin A nephropathy

description: IgA nephropathy secondary to a genetic mutation that is transmitted from parents to offspring.


Acquired calyceal diverticulum

description: An out-pouching of the calyx into the renal parenchyma.


cystic kidney disease

description: A congenital or acquired kidney disorder characterized by the presence of renal cysts.


Nephrotic Syndrome - PDSS2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the PDSS2 gene.


name: Nephrotic Syndrome with Lesion of Focal Glomerulosclerosis

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 scarring of some of the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


diffuse glomerulonephritis

description: Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure.


Nephrotic Syndrome - COQ2 Associated

description: Nephrotic syndrome attributed to mutation(s) in the COQ2 gene.


name: Systemic Lupus Erythematosus Nephritis Class V

description: Systemic lupus erythematosus nephritis, with global or segmental subepithelial immune deposits or their morphologic sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. (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.)


Hantavirus nephropathy

description: Tubulointerstitial hemorrhage resulting from hantavirus infection.


Henoch-Schonlein purpura nephritis

description: Glomerulonephritis in the context of Henoch-Schönlein purpura.


name: Chronic Kidney Disease due to Diabetes Mellitus

description: Longstanding kidney disease as a complication of diabetes.


Steroid-dependent nephrotic syndrome

description: A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy.


name: Acute Kidney Injury with Renal Replacement Therapy Related to COVID-19

description: Abrupt reduction in kidney function as measured by urine output and renal biomarkers requiring any renal replacement therapy in a patient with probable or confirmed acute COVID-19.


Leptospirosis Nephropathy

description: Interstitial nephritis due to Leptospira, which may be associated with non-oliguric acute kidney injury.


idiopathic nephrotic syndrome

description: Nephrotic syndrome for which no cause has been identified.


Cryoglobulinemic glomerulonephritis

description: Glomerulonephritis in the context of cryoglobulinemia.


name: Chemotherapeutic Drug - Induced Nephropathy

description: Kidney damage resulting from exposure to chemotherapeutic drugs.


IgM - Associated Nephropathy

description: A condition characterized by deposition of IgM antibody in the glomerulus.


NSAID-Induced Nephropathy

description: Kidney damage resulting from exposure to non-steroidal anti-inflammatory drugs (NSAIDs).


Idiopathic Membranous Glomerulopathy

description: Chronic degenerative changes in the kidney characterized by thickened and inflamed glomeruli and proteinurea, the cause of which is unknown.


Microcystic renal disease

description: A congenital renal disorder characterized by the presence of small cysts in the renal cortex and/or renal medulla.


Focal lupus nephritis

description: A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations


Idiopathic Renal Papillary Necrosis

description: Necrosis of the renal papillae, for which no underlying cause has been identified.


Diffuse glomerulosclerosis

description: A renal disorder characterized by glomerular damage due to ischemia. It leads to progressive deterioration of renal function.


name: Nephrotic Syndrome with Lesion of Persistent 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 a chronic inflammatory reaction in the glomerular capillaries. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.


name: Systemic Lupus Erythematosus Nephritis Class IV G

description: Systemic lupus erythematosus nephritis, characterized by active or inactive diffuse, global 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.)


name: Nephrotic Syndrome - ARHGAP24 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ARHGAP24 gene.


familial nephrotic syndrome

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


Stage 4 chronic kidney disease

description: A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).


proliferative glomerulonephritis

description: A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis.


Chronic kidney disease stage 3B

description: Long-standing and persistent renal disease with glomerular filtration rate (GFR) between 30-44 ml/min.


Advanced sclerotic lupus nephritis

description: A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity.


name: Calcineurin Inhibitor - Induced Nephropathy

description: Kidney damage resulting from exposure to calcineurin inhibitors.


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

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.


name: familial juvenile hyperuricemic nephropathy type 1

description: A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.


Nephrotic Syndrome - CD2AP Associated

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


polycystic kidney disease 2

description: Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.


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.


crescentic glomerulonephritis

description: A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months.


Malignant Hypertensive Nephropathy

description: Hypertensive nephropathy secondary to malignant hypertension.


lupus nephritis

description: Glomerulonephritis in the context of systemic lupus erythematosus.


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.


xanthogranulomatous pyelonephritis

description: Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli.


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.


HIV-associated nephropathy

description: Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings.


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.


kidney hypertrophy

description: Global enlargement of the renal parenchyma in one or both kidneys.


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.


acute urate nephropathy

description: Urolithiasis in which the composition of the stones is predominantly urate.


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.


name: autosomal dominant polycystic kidney disease

description: Autosomal dominant form of polycystic kidney disease.


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.


Balkan nephropathy

description: A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.


name: Nephrotic Syndrome - Hepatitis B Virus Associated

description: Nephrotic syndrome associated with hepatitis B.


name: nephrotic syndrome of childhood - steroid sensitive

description: Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids.


Arterionephrosclerosis

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


renal artery disease

description: A disease involving the renal artery.


Dent disease

description: Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.


Nephropathy due to Cisplatin

description: Kidney damage resulting from cisplatin.


description: Membranous nephropathy associated with infectious disease.


cystinosis

description: Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.


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.


name: autosomal recessive polycystic kidney disease

description: An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.


Nephropathy due to Analgesic Drugs

description: Kidney damage resulting from analgesic drugs.


Complex renal cyst

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


C3 glomerulonephritis

description: Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.


polycystic kidney disease 1

description: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.


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).


nephronophthisis

description: Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.


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.


immunotactoid glomerulopathy

description: Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases.


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.)


description: Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function.


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.


nephropathic cystinosis

description: An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.


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.


Glomerulomegaly

description: Abnormally large size of glomeruli.


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.


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.


Stage 3 chronic kidney disease

description: A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).


name: Nephrotic Syndrome - Hepatitis C Virus Associated

description: Nephrotic syndrome associated with a hepatitis C infection.


nephrotic syndrome, type 4

description: Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.


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.


Membranous lupus nephritis

description: A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis


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.


Mesangial proliferative lupus nephritis

description: A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy.


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.


acute proliferative glomerulonephritis

description: Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.


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.


immune-complex glomerulonephritis

description: Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function.


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.


glomerulosclerosis

description: A hardening of the kidney glomerulus caused by scarring of the blood vessels.


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.


name: phagosome-lysosome fusion involved in apoptotic cell clearance

description: The creation of a phagolysosome from a phagosome and a lysosome as a part of apoptotic cell clearance.


name: negative regulation of asexual sporulation resulting in formation of a cellular spore

description: Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a cellular spore derived from the products of mitosis.


name: negative regulation of aplanospore formation

description: Any process that stops, prevents, or reduces the frequency, rate or extent of aplanospore formation, a process in which a nonmotile, asexual spore is formed within a cell in certain algae and fungi (commonly in the Phycomycetes), the wall of aplanospore is distinct from that of the parent cell.


name: negative regulation of aeciospore formation

description: Any process that stops, prevents, or reduces the frequency, rate or extent of aeciospore formation, a process in which a dikaryotic spore of typically a rust fungus is produced in an aecium.


name: negative regulation of uredospore formation

description: Any process that stops, prevents, or reduces the frequency, rate or extent of uredospore formation, a process in which an asexual, dikaryotic, often rusty-colored spore, is formed in a structure called a uredinium.


name: negative regulation of zoospore formation

description: Any process that stops, prevents, or reduces the frequency, rate or extent of zoospore formation, a process in which a diploid cell undergoes meiosis, and the meiotic products acquire specialized features of asexual motile mononucleate flagellated spores called zoospores.


name: negative regulation of sporangiospore formation

description: Any process that stops, prevents, or reduces the frequency, rate or extent of sporangiospore formation, a process in which sporangiospores, a type of asexual spore found in fungi, are formed. Sporangiospores are formed within sac-like structure, the sporangium, following the division of the cytoplasm.


name: negative regulation of teliospore formation

description: Any process that stops, prevents, or reduces the frequency, rate or extent of teliospore formation, which is the formation of a thick-walled resting or overwintering spore produced by the rust fungi (Uredinales) and smut fungi (Ustilaginales) in which karyogamy occurs.


name: D-glycero-D-manno-heptose 7-phosphate biosynthetic process

description: The chemical reactions and pathways resulting in the formation of a D-glycero-D-manno-heptose 7-phosphate.


name: sessile serrated polyposis cancer syndrome


name: squamous cell carcinoma of buccal mucosa

description: A squamous cell carcinoma that involves the buccal mucosa.


mucinous adenocarcinoma of the appendix

description: Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.


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.


pancreatic cystadenocarcinoma

description: A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.


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: nodular regenerative hyperplasia of the liver

description: Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.


intestinal infectious disease

description: An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa.


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.


name: carcinoma of esophagus, salivary gland type


rectum adenoma

description: An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.


cholangiocarcinoma

description: A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.


hepatic angiomyolipoma

description: An angiomyolipoma arising from the liver.


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.


rectal neoplasm

description: A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


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.


lipoatrophic diabetes

description: A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.


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.


fibrolamellar hepatocellular carcinoma

description: A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.


intrahepatic bile duct cancer

description: A cancer that involves the intrahepatic bile duct.


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.


cecal neoplasm

description: A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


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.


colon dysplasia

description: A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion.


intestinal cancer

description: A malignant neoplasm involving the intestine


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


ampulla of vater adenocarcinoma

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


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.


ampulla of vater cancer

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


duodenal adenocarcinoma

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


small intestine leiomyosarcoma

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


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.


descending colon cancer

description: A malignant neoplasm involving the descending colon.


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.


fibrotic liver disease

description: A liver disease characterized by the presence of excessive fibrous connective tissue in the liver.


oropharynx cancer

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


liver leiomyosarcoma

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


gastric lymphoma

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


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.


inflammatory bowel disease 10

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 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.


gallbladder neuroendocrine neoplasm

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


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.


hereditary gastric cancer

description: Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.


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.


GCGR-related hyperglucagonemia

description: A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.


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.


hepatoportal sclerosis

description: Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.


ascending cholangitis

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


carcinoma of duodenum

description: A carcinoma that involves the duodenum.


malignant tumor of floor of mouth

description: A cancer that involves the mouth floor.


biliary tract neoplasm

description: A neoplasm that involves the biliary tract.


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.


abetalipoproteinemia

description: Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.


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.


intrahepatic cholestasis of pregnancy

description: A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.


name: diarrhea 10, protein-losing enteropathy type


name: malignant neoplasm of thoracic esophagus

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


hyperplastic polyposis syndrome

description: Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.


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.


superior mesenteric artery syndrome

description: Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment.


cirrhosis, familial

description: Cirrhosis in which no causative agent can be identified.


pericholangitis

description: Inflammation of the tissue surrounding the biliary ducts.


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.


colonic disorder

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


mucinous pancreas adenocarcinoma

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


periampullary adenocarcinoma

description: An adenocarcinoma that arises from the periampullary region.


name: carcinoma of liver and intrahepatic biliary tract

description: A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.


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.


Dieulafoy lesion

description: Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.


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)


hereditary folate malabsorption

description: Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.


chronic cholangitis

description: Cholangitis that is persistent and long-standing.


gastric adenosquamous carcinoma

description: A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.


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.


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


gastric carcinoma

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


name: diabetes mellitus, noninsulin-dependent, 3


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.


inflammatory bowel disease 27

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3


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.


pancreatic cholera

description: A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells.


liver sarcoma

description: A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma.


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.


eosinophilic gastritis

description: An eosinophilic gastroenteritis that is characterized by inflammation of the stomach.


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.


hypopharynx cancer

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


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.


glucose-galactose malabsorption

description: Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.


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.


duodenal atresia

description: Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.


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.


gingival cancer

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


esophagus squamous cell papilloma

description: A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare.


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: solid pseudopapillary neoplasm of the pancreas

description: A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases.


gallbladder neoplasm

description: A neoplasm (disease) that involves the gall bladder.


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.


name: maturity-onset diabetes of the young type 1

description: Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.


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.


pancreatic acinar cell carcinoma

description: An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis.


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.


undifferentiated pancreatic carcinoma

description: A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells.


primary sclerosing cholangitis

description: Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.


description: A hepatocellular carcinoma that develops following exposure to aflatoxin.


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.


familial pancreatic carcinoma

description: Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.


pancreatoblastoma

description: Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.


eosinophilic gastroenteritis

description: Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.