A (5Z,8Z,11Z)-14,15-dihydroxyicosatrienoic acid in which the two stereocentres at positions 14 and 15 both have R-configuration.


2,3,4,5-tetranor-thromboxane B1

A monocarboxylic acid that is thromboxane B1 which is lacking four methylenes in the carboxyalkyl chain. It is a urinary metabolite of thromboxane B2.


DHET

An icosanoid obtained by formal dihydroxylation across one of the double bonds of arachidonic acid.


nonclassic icosanoid

Any biologically active signalling molecule made by oxygenation of C20 fatty acids other than the classic icosanoids (the leukotrienes and the prostanoids).


A HPETE that consists of (5Z,8Z,11Z,13E)-icosatetraenoic acid in which the hydroperoxy group is located at position 15.


11-Dehydro-thromboxane B2

A thromboxane obtained by formal oxidation of the hemiacetal hydroxy function of thromboxane B2.


An 8,9-EET in which the epoxy moiety has 8S,9R-configuration.


A (5Z,8Z,11Z)-14,15-dihydroxyicosatrienoic acid in which the two stereocentres at positions 14 and 15 both have S-configuration.


A HETE that is icosa-5,8,10,14-tetraenoic acid substituted by a hydroxy group at position 12. It is a metabolite of arachidonic acid.


trihydroxyicosatrienoic acid

A nonclassic icosanoid that consists of any icosatrienoic acid carrying three hydroxy substituents.


carbocyclic thromboxane A2

A member of the class of thromboxanes that is thromboxane A2 in which the bridging oxygen has been replaced by a methylene group.


Thromboxane B3

A member of the class of thromboxanes B that is (5Z,13E,17Z)-thromboxa-5,13,17-trien-1-oic acid substituted by hydroxy groups at positions 9, 11 and 15.


A HETE that consists of arachidonic acid bearing a hydroxy substituent at position 18.


An 8,9-EET in which the epoxy moiety has 8R,9S-configuration.


Prostaglandin

Naturally occurring compounds derived from the parent C20 acid, prostanoic acid.


A 13-HETE in which the stereocentre at position 13 has S-configuration.


A 14,15-EET in which the epoxy moiety has 14R,15S-configuration.


EET

An icosanoid obtained by formal epoxidation of one of the double bonds of arachidonic acid.


HETE

Any monohydroxylated icosanoid having four double bonds.


icosenoic acid

An icosanoid comprising icosanoic acid having one C=C bond at any position.


12-Hydroxyeicosatetraenoic acid

The (5Z,8Z,10E,14Z)-stereoisomer of 12-HETE.


prostanoid

The family of natural prostaglandins and prostaglandin-like compounds including prostacyclins and thromboxanes.


Thromboxane B1

A thromboxane B that is thromboxane B2 in which the double bond at position 5-6 has been reduced to a single bond.


A HETE that consists of arachidonic acid bearing an additional hydroxy substituent at position 16.


11,12-Epoxyeicosatrienoic acid

An EET obtained by formal epoxidation of the 11,12-double bond of arachidonic acid.


A (5Z,8Z,14Z)-11,12-dihydroxyicosatrienoic acid in which the two stereocentres at positions 11 and 12 both have R-configuration.


A (5Z,11Z,14Z)-8,9-dihydroxyicosatrienoic acid in which the two stereocentres at positions 8 and 9 both have R-configuration.


A (5Z,11Z,14Z)-8,9-dihydroxyicosatrienoic acid in which the two stereocentres at positions 8 and 9 both have S-configuration.


18-hydroxycarbocyclic thromboxane A2

A member of the class of thromboxanes that is carbocyclic thromboxane A2 carrying an additional hydroxy substituent at position 18.


19-hydroxycarbocyclic thromboxane A2

A member of the class of thromboxanes that is carbocyclic thromboxane A2 carrying an additional hydroxy substituent at position 19.


leukotriene

Any icosanoid from that family of C20 polyunsaturated fatty acids and their derivatives generated by leukocytes from arachidonic acid, each member having four double bonds of which three are conjugated.


HPETE

Mono-hydroperoxy (e)icosatetraenoic acids (HPETEs) are the primary products of lipoxygenase-catalysed oxygenation of arachidonic acid.


A 14,15-EET in which the epoxy moiety has 14S,15R-configuration.


A thromboxane A that is thromboxane A2 carrying an additional hydroxy substituent at position 19.


A HETE that is (5Z,8Z,11Z,13E)-15-hydroxyicosa-5,8,11,13-tetraenoic acid bearing a hydroxy substituent at position 15.


A (5Z,8Z,14Z)-11,12-dihydroxyicosatrienoic acid in which the two stereocentres at positions 11 and 12 both have S-configuration.


Cervical Micropapillary Adenocarcinoma

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

A rare, invasive adenocarcinoma that arises from the cervix and is characterized by a micropapillary architecture.


A steroid glucosiduronic acid that is calcitriol in which the hydroxy hydrogen at position 25 has been replaced by a beta-D-glucuronyl residue.


sodium/nucleoside cotransporter 1 isoform h2 (human)

A sodium/nucleoside cotransporter 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00337-2.


lactotransferrin, signal peptide removed form (human)

A lactotransferrin (human) that has had the signal peptide removed. UniProtKB:P02788, 20-710.


ATP-dependent RNA helicase DHX15 isoform 1 (human)

An ATP-dependent RNA helicase DHX15 isoform 1 that is encoded in the genome of human.


short transient receptor potential channel 6 isoform h1 (human)

A short transient receptor potential channel 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y210-1.


short transient receptor potential channel 6

A transient receptor potential cation channel TRPC3/6/7 that is a translation product of the human TRPC6 gene or a 1:1 ortholog thereof.


short transient receptor potential channel 6 isoform h3 (human)

A short transient receptor potential channel 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y210-3.


short transient receptor potential channel 6 N-glycosylated 2 (human)

A short transient receptor potential channel 6 (human) that has been N-glycosylated at the residue equivalent to Asn-473 of the amino acid sequence represented by UniProtKB:Q9Y210-1, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:Q9Y210-1, Asn-473, MOD:00160~GNO:G12580WI.


short transient receptor potential channel 6 N-glycosylated 1 (human)

A short transient receptor potential channel 6 (human) that has been N-glycosylated at the residue equivalent to Asn-473 of the amino acid sequence represented by UniProtKB:Q9Y210-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:Q9Y210-1, Asn-473, MOD:00160~GNO:G08293MJ.


short transient receptor potential channel 6 isoform h2 (human)

A short transient receptor potential channel 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y210-2.


troponin C, slow skeletal and cardiac muscles isoform 1 (human)

A troponin C, slow skeletal and cardiac muscles isoform 1 that is encoded in the genome of human.


Guanidinohydantoin

An imidazolidine-2,4-dione substituted by a guanidino group at position 5.


Unresectable Cervical Adenosquamous Carcinoma

Cervical adenosquamous carcinoma that is not amenable to surgical resection.


deoxyhypusine synthase isoform Long (human)

A deoxyhypusine synthase isoform 1 that is encoded in the genome of human.


deoxyhypusine synthase isoform Short (human)

A deoxyhypusine synthase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49366-2.


deoxyhypusine synthase isoform h3 (human)

A deoxyhypusine synthase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49366-3.


diacylglycerol 35:2

A diglyceride in which the two acyl groups contain a total of 35 carbons and 2 double bonds.


protein phosphatase 1 regulatory subunit 3C isoform 1 (human)

A protein phosphatase 1 regulatory subunit 3C isoform 1 that is encoded in the genome of human.


electrogenic sodium bicarbonate cotransporter 1 isoform 1 (human)

An electrogenic sodium bicarbonate cotransporter 1 isoform 1 that is encoded in the genome of human.


Recurrent Unspecified Lung Carcinoma

Lung carcinoma that has re-emerged after a period of remission.


Large cell lung cancer recurrent

The reemergence of large cell lung carcinoma after a period of remission.


Recurrent Lung Non-Small Cell Squamous Carcinoma

The reemergence of lung squamous non-small cell carcinoma after a period of remission.


Recurrent Bronchogenic Carcinoma

The reemergence of bronchogenic carcinoma after a period of remission.


Non-small cell lung cancer recurrent

The re-emergence of non-small cell lung carcinoma after a period of remission.


Recurrent Lung Non-Squamous Non-Small Cell Carcinoma

The reemergence of non-squamous non-small cell lung carcinoma after a period of remission.


Adenosquamous cell lung cancer recurrent

The reemergence of adenosquamous lung carcinoma after a period of remission.


Lung adenocarcinoma recurrent

The re-emergence of lung adenocarcinoma after a period of remission.


Small cell lung cancer recurrent

The reemergence of small cell carcinoma of the lung after a period of remission.


Lung squamous cell carcinoma recurrent

The re-emergence of squamous cell lung carcinoma after a period of remission.


Recurrent Extensive Stage Lung Small Cell Carcinoma

Extensive stage small cell lung carcinoma that has reemerged after a period of remission.


protein tweety homolog 2 isoform h2 (human)

A protein tweety homolog 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BSA4-2.


protein tweety homolog 2 isoform h1 (human)

A protein tweety homolog 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BSA4-1.


katanin p60 ATPase-containing subunit A-like 1

A protein that is a translation product of the human KATNAL1 gene or a 1:1 ortholog thereof.


GPI transamidase component PIG-S isoform h2 (human)

A GPI transamidase component PIG-S (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96S52-2.


DNA polymerase beta unacetylated 1 (human)

A DNA polymerase beta (human) that lacks acetylation on the residue equivalent to Lys-72 of the amino acid sequence represented by UniProtKB:P06746. UniProtKB:P06746, Lys-72, PR:000026291.


acid ceramidase isoform h2 (human)

An acid ceramidase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13510-2.


sphingosine kinase 2 isoform h2 (human)

A sphingosine kinase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NRA0-2.


sphingosine kinase 2

A protein that is a translation product of the human SPHK2 gene or a 1:1 ortholog thereof.


sphingosine kinase 2 isoform h5 (human)

A sphingosine kinase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NRA0-5.


sphingosine kinase 2 isoform h4 (human)

A sphingosine kinase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NRA0-4.


sphingosine kinase 2 isoform h3 (human)

A sphingosine kinase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NRA0-3.


sphingosine kinase 2 isoform h1 (human)

A sphingosine kinase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NRA0-1.


UTP--glucose-1-phosphate uridylyltransferase isoform 1 (human)

A UTP--glucose-1-phosphate uridylyltransferase isoform 1 that is encoded in the genome of human.


A protein that is a translation product of the human UGP2 gene or a 1:1 ortholog thereof.


UTP--glucose-1-phosphate uridylyltransferase isoform h2 (human)

A UTP--glucose-1-phosphate uridylyltransferase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q16851-2.


methionine aminopeptidase 1D, mitochondrial isoform 1 (human)

A methionine aminopeptidase 1D, mitochondrial isoform 1 that is encoded in the genome of human.


C-1-tetrahydrofolate synthase, cytoplasmic, initiator methionine removed form (human)

A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has had the initiator methionine removed. UniProtKB:P11586, 2-935.


C-1-tetrahydrofolate synthase, cytoplasmic isoform 1 (human)

A C-1-tetrahydrofolate synthase, cytoplasmic isoform 1 that is encoded in the genome of human.


hydroxyacylglutathione hydrolase-like protein isoform h3 (human)

A hydroxyacylglutathione hydrolase-like protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6PII5-3.


methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial, transit peptide removed form (human)

A methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial (human) that has had the transit peptide removed. UniProtKB:Q02252, 34-535.


carbonic anhydrase 1 isoform 1 (human)

A vertebrate-type carbonic anhydrase 1 isoform 1 that is encoded in the genome of human.


carbonic anhydrase 1, initiator methionine removed form (human)

A carbonic anhydrase 1 (human) that has had the initiator methionine removed. UniProtKB:P00915, 2-261.


ephrin type-B receptor 4 isoform h2 (human)

An ephrin type-B receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54760-2.


Ras-related protein Rap-1b isoform h4 (human)

A Ras-related protein Rap-1b (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P61224-4.


citrate synthase, mitochondrial, transit peptide removed form (human)

A citrate synthase, mitochondrial (human) that has had the transit peptide removed. UniProtKB:O75390, 28-466.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human)

A sex hormone-binding globulin isoform with conserved glycosylation sites (human) that has had the signal peptide removed and has been post-translationally modified to include O-glycosylation and N-glycosylation on residues equivalent to Thr-36 and Asn-396, respectively, of the amino acid sequence represented by UniProtKB:P04278-1. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, MOD:00831.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 13 (human)

A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7846. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7846.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 15 (human)

A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7764. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7764.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 12 (human)

A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7763. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7763.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 10 (human)

A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7863. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7863.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 14 (human)

A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7674. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7674.


sex hormone-binding globulin isoform, signal peptide removed glycosylated 11 (human)

A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7834. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7834.


Midazolam hydrochloride

The hydrochloride salt of midazolam.


tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like isoform h2 (human)

A tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96G46-2.


tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like isoform h3 (human)

A tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96G46-3.


tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like isoform h1 (human)

A tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96G46-1.


fibulin-2 O-glycosylated 9 (human)

A fibulin-2 (human) that has been O-glycosylated at the residue equivalent to Thr-210 of the amino acid sequence represented by UniProtKB:P98095-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P98095-1, Thr-210, MOD:00005~GNO:G58001LT.


serine/threonine-protein kinase 26 isoform h2 (human)

A serine/threonine-protein kinase 26 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9P289-2.


A nitrile that is acetonitrile where one of the methyl hydrogens is substituted by a 2-thienyl group.


nephrocalcinosis

Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys.


kidney disorder

A disease involving the kidney.


cystinosis

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.


digestive system disorder

A disease or disorder that involves the digestive system.


mucinous adenocarcinoma of the appendix

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.


colon Kaposi sarcoma

A Kaposi sarcoma arising from the colon.


cholangitis

An acute or chronic inflammatory process affecting the biliary tract.


anal canal adenocarcinoma

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.


digestive system carcinoma

A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.


hereditary biliary tract disease

Genetic biliary tract disease.


lipoatrophic diabetes

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


fibrolamellar hepatocellular carcinoma

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.


cholecystitis

An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones.


diabetes mellitus, noninsulin-dependent, 5

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


intestinal cancer

A malignant neoplasm involving the intestine


descending colon cancer

A malignant neoplasm involving the descending colon.


hepatic flexure cancer

A malignant neoplasm involving the hepatic flexure of colon.


colorectal medullary carcinoma

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.


autoimmune disorder of gastrointestinal tract

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


congenital sodium diarrhea

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


anal margin carcinoma

A carcinoma that arises from epithelial cells of the perianal skin


Lynch syndrome 5

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


colon small cell neuroendocrine carcinoma

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.


cirrhosis, familial

Cirrhosis in which no causative agent can be identified.


carcinoma of liver and intrahepatic biliary tract

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


diabetes mellitus, noninsulin-dependent, 3


colon Burkitt lymphoma

A rare Burkitt lymphoma that arises from the colon.


familial intrahepatic cholestasis

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


cecum lymphoma

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


diabetes mellitus

A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.


cirrhosis of liver

A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.


carcinoma in situ of cecum

A in situ carcinoma that involves the caecum.


non-neoplastic bile duct disorder

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


A hepatocellular carcinoma that develops following exposure to aflatoxin.


diarrheal disease

The condition of having at least three loose or liquid bowel movements each day.


submucosal invasive colon adenocarcinoma

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


congenital sucrase-isomaltase deficiency without sucrose intolerance


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


biliary tract disorder

A disease involving the biliary tree.


sigmoid colon cancer

A malignant neoplasm involving the sigmoid colon.


malabsorption syndrome

A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea.


sclerosing hepatic carcinoma

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


hereditary nonpolyposis colon cancer

Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.


adenosquamous colon carcinoma

An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.


anal verrucous carcinoma

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


congenital isolated hyperinsulinism

Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.


maturity-onset diabetes of the young

MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.


Lynch syndrome

An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.


islet cell adenomatosis

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


colon sarcoma

A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.


malignant colon neoplasm

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


biliary atresia

A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.


anus rhabdomyosarcoma

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


rectal carcinoma

A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.


meconium ileus

Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.


colon carcinoma

A carcinoma that arises from epithelial cells of the colon


splenic flexure cancer

A malignant neoplasm involving the splenic flexure of colon.


rectum malignant melanoma

An aggressive malignant melanocytic neoplasm that arises from the rectum.


congenital sucrase-isomaltase deficiency with starch intolerance


rectal adenosquamous carcinoma

An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.


colon mucosa-associated lymphoid tissue lymphoma

An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon.


appendix lymphoma

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


rectosigmoid junction cancer

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


autosomal erythropoietic protoporphyria

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


malignant exocrine pancreas neoplasm

A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.


POLE-related polyposis and colorectal cancer syndrome

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


anus sarcoma

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


pancreatic neoplasm

A benign or malignant neoplasm involving the pancreas.


appendix cancer

A malignant neoplasm involving the vermiform appendix


neuroendocrine tumor of the anal canal

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


metastasis from malignant tumor of colon


Imerslund-Grasbeck syndrome

Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.


diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency


gallbladder disorder

A disease involving the gall bladder.


hepatobiliary neoplasm

A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.


colon lymphoma

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


primary biliary cholangitis

Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.


colorectal serrated adenocarcinoma

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


colon medullary carcinoma

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


squamous cell carcinoma of rectum

A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.


rectal medullary carcinoma

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


intractable diarrhea of infancy

Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterized by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterized by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.


cloacogenic carcinoma

An anal carcinoma arising from the transitional zone of the anal canal.


appendix mucinous cystadenocarcinoma

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


anus adenocarcinoma

An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis.


perianal skin Paget disease

Paget disease involving the perianal skin.


cecum adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the caecum


anal canal Paget disease

Paget disease involving the squamous epithelium of the anal canal.


anal melanoma

A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor.


colorectal cancer, hereditary nonpolyposis, type 6

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


pseudomyxoma peritonei

Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.


ascending colon cancer

A malignant neoplasm involving the ascending colon.


Lynch syndrome 8

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


bile duct disorder

A disease involving the bile duct.


liver disorder

A disease involving the liver.


anus basaloid carcinoma

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


monogenic diabetes

Diabetes mellitus that is caused by mutations in a single gene.


latent autoimmune diabetes in adults

A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus.


rectum adenocarcinoma

An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.


hepatocellular clear cell carcinoma

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


pancreas disorder

A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms.


rectum Kaposi sarcoma

A Kaposi sarcoma arising from the rectum.


autoimmune enteropathy

Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.


appendix adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the vermiform appendix.


anal Paget disease

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


carcinoma in situ of appendix

A in situ carcinoma that involves the vermiform appendix.


large intestine disorder

A disease that involves the large intestine.


goblet cell carcinoma

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


Lynch syndrome 1

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


colon leiomyosarcoma

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


Lynch syndrome 2

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


anus cancer

A malignant neoplasm involving the anus


digestive system cancer

A primary or metastatic malignant neoplasm involving any part of the digestive system.


congenital sucrase-isomaltase deficiency with minimal starch tolerance


Lynch syndrome 4

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


anal canal neuroendocrine neoplasm

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


cecum cancer

A malignant neoplasm involving the caecum


colorectal diffuse large B-cell lymphoma

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


hyperinsulinism

Abnormally high levels of insulin in the blood.


esophagitis

An acute or chronic inflammatory disease affecting the esophageal wall.


liver diffuse large B-cell lymphoma

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


triple-A syndrome

Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.


anus lymphoma

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


anal mucinous adenocarcinoma

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


colorectal signet ring cell carcinoma

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


cholestasis

Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system.


eosinophilic esophagitis

Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs).


rectum lymphoma

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


erythropoietic protoporphyria

A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.


autosomal recessive hyperinsulinism due to SUR1 deficiency


familial hyperinsulinism

An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.


endocrine pancreas disorder

A disease involving the endocrine pancreas.


mixed hepatoblastoma

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


colorectal neoplasm

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


diabetes mellitus, noninsulin-dependent, 4


rectum carcinoma in situ

A in situ carcinoma that involves the rectum.


inflammatory bowel disease

A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.


progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.


hereditary gallbladder disorder

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


colorectal carcinoma

A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.


liver and intrahepatic bile duct neoplasm

A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma.


secretory diarrhea

Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.


adult hepatocellular carcinoma

Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.


rectal cloacogenic carcinoma

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


macrotrabecular hepatoblastoma

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


adenocarcinoma of liver and intrahepatic biliary tract


colorectal squamous cell carcinoma

A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.


rectosigmoid carcinoma

A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area.


pediatric hepatocellular carcinoma

Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.


hepatoblastoma

Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.


mixed fibrolamellar hepatocellular carcinoma

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


intestinal disorder

A non-neoplastic or neoplastic disorder that affects the small or large intestine.


MALT lymphoma

An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)


rectal signet ring cell adenocarcinoma

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


intestinal disease due to fat malabsorption


colorectal adenocarcinoma

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


squamous cell carcinoma of colon

A squamous cell carcinoma that involves the colon.


rectal sarcomatoid carcinoma

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


familial colorectal cancer

Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.


appendix carcinoma

A carcinoma that arises from epithelial cells of the vermiform appendix


anal margin basal cell carcinoma

A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare.


anal margin squamous cell carcinoma

A squamous cell carcinoma arising from the perianal skin.


diabetes mellitus, noninsulin-dependent, 2


anal canal carcinoma in situ

A carcinoma in situ involving a anal canal.


colon carcinoma in situ

A in situ carcinoma that involves the colon.


rectum sarcoma

A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.


colorectal adenosquamous carcinoma

An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.


rectum rhabdomyosarcoma

A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum.


colorectal cancer, hereditary nonpolyposis, type 7

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


congenital sucrase-isomaltase deficiency without starch intolerance


cecum carcinoma

A carcinoma that arises from epithelial cells of the caecum


diabetes mellitus, noninsulin-dependent, 1


anal squamous cell carcinoma

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


anal gland adenocarcinoma

An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes.


intestinal disaccharidase deficiency

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


esophageal disorder

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


POLD1-related polyposis and colorectal cancer syndrome

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


congenital sucrase-isomaltase deficiency with starch and lactose intolerance


intestinal disease due to vitamin absorption anomaly


malignant pancreatic neoplasm

A malignant neoplasm involving the pancreas.


anal carcinoma

A carcinoma that arises from epithelial cells of the anus


rectum leiomyosarcoma

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


familial colorectal cancer type X

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


transverse colon cancer

A malignant neoplasm involving the transverse colon.


colorectal lymphoma

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


intrahepatic cholestasis

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


colon mucinous adenocarcinoma

An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.


glucose intolerance

The inability to regulate blood glucose levels resulting in hyperglycemia.


rectum mucinous adenocarcinoma

An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.


hepatic porphyria

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


Muir-Torre syndrome

Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.


liver cancer

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


exocrine pancreatic carcinoma

A carcinoma that arises from epithelial cells of the exocrine pancreas


pancreatic exocrine neoplasm

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


intestinal neoplasm

A benign or malignant neoplasm involving the small or large intestine.


colon signet ring cell adenocarcinoma

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


colon adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the colon


rectal cancer

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


colorectal Kaposi sarcoma

A Kaposi sarcoma that arises from the colon or rectum.


anal canal squamous cell carcinoma

A squamous cell carcinoma arising from the mucosa of the anal canal.


hepatobiliary disorder

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


anal canal carcinoma

A carcinoma that arises from epithelial cells of the anal canal


anus leiomyosarcoma

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


two pore channel protein 1 isoform h1 (human)

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


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

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


cholesteryl ester transfer protein isoform h2 (human)

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


cholesteryl ester transfer protein O-glycosylated 1 (human)

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


cholesteryl ester transfer protein isoform h1 (human)

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


alpha-mannosidase 2x isoform h3 (human)

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


ELAV-like protein 4 isoform m2 (mouse)

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


voltage-dependent calcium channel gamma-5 subunit

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


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

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


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

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


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

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


Elaeodendroside W

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


dysgerminoma of ovary

A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage.


pediatric ovarian dysgerminoma

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


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

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


spermine oxidase isoform 1 (human)

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


spermine oxidase

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


spermine oxidase isoform 6 (human)

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


spermine oxidase isoform h2 (human)

A spermine oxidase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NWM0-2.


spermine oxidase isoform h5 (human)

A spermine oxidase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NWM0-5.


spermine oxidase isoform 3 (human)

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


spermine oxidase isoform h4 (human)

A spermine oxidase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NWM0-4.


phosphatidylethanolamine-binding protein 1 isoform 1 (human)

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


Anterior Pituitary Gland Neoplasm

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


Pituitary Neuroendocrine Tumor of PIT1-Lineage

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


pituitary gland adenoma

A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.


prolactin-producing pituitary gland carcinoma

A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin.


Densely Granulated Lactotroph Pituitary Neuroendocrine Tumor

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


Sparsely Granulated Lactotroph Pituitary Neuroendocrine Tumor

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


ubiquitin-like domain-containing CTD phosphatase 1

A protein that is a translation product of the human UBLCP1 gene or a 1:1 ortholog thereof.


ubiquitin-like domain-containing CTD phosphatase 1 isoform 1 (human)

A ubiquitin-like domain-containing CTD phosphatase 1 isoform 1 that is encoded in the genome of human.


tRNA (cytosine(38)-C(5))-methyltransferase isoform E (human)

A tRNA (cytosine(38)-C(5))-methyltransferase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O14717-5.


A steroid acid, the 4-carboxy derivative of zymosterol.


tyrosine-protein kinase SYK isoform Short (human)

A tyrosine-protein kinase SYK (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43405-2.


tyrosine-protein kinase SYK phosphotyrosine form (human)

A tyrosine-protein kinase SYK (human) that includes at least one phosphorylated tyrosine. UniProtKB:P43405, MOD:00048.


tyrosine-protein kinase SYK phosphorylated 2 (human)

A tyrosine-protein kinase SYK phosphorylated 2 in human. UniProtKB:P43405, Tyr-348, MOD:00048.


tyrosine-protein kinase SYK phosphorylated 3 (human)

A tyrosine-protein kinase SYK (human) that has been post-translationally modified to include phosphotyrosine at positions 131, 323, 348, 352, 525 and 526 of the amino acid sequence represented by UniProtKB:P43405. UniProtKB:P43405, Tyr-131/Tyr-323/Tyr-348/Tyr-352/Tyr-525/Tyr-526, MOD:00048.


polycystin-1 isoform h2 (human)

A polycystin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P98161-2.


alanine aminotransferase 1, initiator methionine removed pyridoxal phosphate lysine 1 (human)

An alanine aminotransferase 1 (human) that has had the initiator methionine removed and has been post-translationally modified to include pyridoxal phosphate lysine at position 314 of the amino acid sequence represented by UniProtKB:P24298. UniProtKB:P24298, 2-496, Lys-314, MOD:00128.


alanine aminotransferase (human)

An alanine aminotransferase that is encoded in the genome of human.


alanine aminotransferase 2 isoform h2 (human)

An alanine aminotransferase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8TD30-2.


alanine aminotransferase 1 isoform 1 (human)

An alanine aminotransferase 1 isoform 1 that is encoded in the genome of human.


alanine aminotransferase 1, initiator methionine removed acetylated and pyridoxal phosphate lysine 1 (human)

An alanine aminotransferase 1, initiator methionine removed acetylated and pyridoxal phosphate lysine 1 in human. UniProtKB:P24298, 2-496, Ala-2, MOD:00050|Lys-314, MOD:00128.


alanine aminotransferase 2 isoform h1 (human)

An alanine aminotransferase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8TD30-1.


alpha-N-acetylgalactosaminidase N-glycosylated 102 (human)

An alpha-N-acetylgalactosaminidase (human) that has been N-glycosylated at the residue equivalent to Asn-385 of the amino acid sequence represented by UniProtKB:P17050-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P17050-1, Asn-385, MOD:00160~GNO:G78059CC.


myeloperoxidase N-glycosylated 8 (human)

A myeloperoxidase (human) that has been N-glycosylated at the residue equivalent to Asn-483 of the amino acid sequence represented by UniProtKB:P05164-1, in which the glycan structure is represented by GlyTouCan:G82348BZ. Example: UniProtKB:P05164-1, Asn-483, MOD:00160~GNO:G82348BZ.


epithelial neoplasm

A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.


ovarian endometrioid adenocarcinoma

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


ovarian adenocarcinoma

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


ovarian clear cell cancer

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


ovarian carcinoma

A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002


Wolffian duct adenocarcinoma

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


ovarian serous adenocarcinoma

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


endometrial undifferentiated carcinoma

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


prostate cancer, hereditary, 2

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


ovarian large-cell neuroendocrine carcinoma

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


endometrial adenosquamous carcinoma

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


oxyphilic endometrial endometrioid adenocarcinoma

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


cervical large cell neuroendocrine carcinoma

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


ovarian seromucinous carcinoma

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


cervical clear cell adenocarcinoma

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


endometrial endometrioid adenocarcinoma with spindled epithelial cells

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


uterine ligament clear cell adenocarcinoma

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


endocervical type cervical mucinous adenocarcinoma

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


hypercalcemic type ovarian small cell carcinoma

An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers.


adenoid basal carcinoma of the cervix uteri

A skin adenoid basal cell carcinoma that involves the uterine cervix.


pulmonary type ovarian small cell carcinoma

An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung.


ovarian serous surface papillary adenocarcinoma

A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern.


undifferentiated ovarian carcinoma

An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor.


endometrial transitional cell carcinoma

A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells.


extra-adrenal sympathetic paraganglioma

A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.


mucin-rich endometrial endometrioid adenocarcinoma


endometrial clear cell adenocarcinoma

A clear cell adenocarcinoma that involves the endometrium.


prostate cancer, hereditary, 13

Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.


rete ovarii adenocarcinoma

An exceptionally rare adenocarcinoma that arises from the rete ovarii.


ovarian small cell carcinoma

A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type.


cervical carcinoma

A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.


endometrial small cell carcinoma

A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically.


cervical keratinizing squamous cell carcinoma

A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present.


endocervical adenocarcinoma

An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei.


mucinous ovarian cancer

An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.


adrenal gland pheochromocytoma

A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.


malignant ovarian serous tumor

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


cervical serous adenocarcinoma

A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen.


cervical adenocarcinoma

An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.


endocervical carcinoma

A carcinoma that arises from epithelial cells of the endocervix.


villoglandular endometrial endometrioid adenocarcinoma

A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells.


endometrial endometrioid adenocarcinoma

A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma.


prostate cancer, hereditary, 1

Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.


endometrium carcinoma in situ

A carcinoma in situ involving a endometrium.


ovarian transitional cell carcinoma

A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present.


prostate cancer, hereditary, 12

Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.


microinvasive cervical squamous cell carcinoma

A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low.


Krukenberg carcinoma

Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast.


adenocarcinoma

A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma.


uterine corpus endometrial carcinoma

A endometrial carcinoma (disease) that involves the body of uterus.


endometrial mucinous adenocarcinoma

A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.


ovarian mucinous adenocarcinoma

An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.


primary peritoneal serous/papillary carcinoma

A rare, serous papillary adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous papillary adenocarcinoma that arises from the ovary.


ovarian endometrial cancer

A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.


ovarian squamous cell carcinoma

A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor.


exocervical carcinoma

A carcinoma that arises from the squamous epithelium of the exocervix.


ovarian clear cell adenocarcinoma

A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia.


carcinoma

A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.


cervical basaloid carcinoma

An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm.


cervical non-keratinizing squamous cell carcinoma

A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent.


cervical adenoid basal carcinoma

A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations.


A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate.


ovarian clear cell malignant adenofibroma

A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma.


adenoma

A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.


cervical mucinous adenocarcinoma

A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin.


endometrium adenocarcinoma

An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma.


familial ovarian carcinoma

Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.


cervical adenosquamous carcinoma, glassy cell variant

A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates.


ovarian carcinosarcoma

A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements.


cervical squamous cell carcinoma

A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis.


papillary carcinoma of the cervix uteri

A papillary carcinoma that involves the uterine cervix.


ovarian endometrioid adenocarcinoma with squamous differentiation

An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance.


cervical endometrioid adenocarcinoma

A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium.


endometrial carcinoma

A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.


ovarian mucinous adenocarcinofibroma

A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material.


uterine ligament mucinous adenocarcinoma

A rare mucinous adenocarcinoma that arises from the uterine ligament.


cervical villoglandular adenocarcinoma

A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern.


endometrial serous adenocarcinoma

A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.


ovarian serous cystadenocarcinoma

A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.


intestinal variant cervical mucinous adenocarcinoma

A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.


ovarian cystadenocarcinoma

An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.


cervical adenosquamous carcinoma

An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells.


ovarian mucinous cystadenocarcinoma

An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.


malignant epithelial tumor of ovary

An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor.


secretory uterine corpus endometrioid adenocarcinoma

An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium.


cervical small cell carcinoma

A small cell carcinoma arising from the cervix.


cervical adenoid cystic carcinoma

A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present.


uterine cervix carcinoma in situ

Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003


malignant ovarian Brenner tumor

A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good.


cervical verrucous carcinoma

A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present.


prostate carcinoma

A carcinoma that arises from epithelial cells of the prostate gland.


cervical mucinous adenocarcinoma, minimal deviation variant

A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands.


signet ring cell variant cervical mucinous adenocarcinoma

A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells.


endometrial mixed adenocarcinoma

An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor.


early invasive cervical adenocarcinoma

A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent.


angiokeratoma

A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli).


uterine ligament serous adenocarcinoma

A rare serous adenocarcinoma that arises from the uterine ligament.


uterine ligament adenocarcinoma

A rare adenocarcinoma that arises from the uterine ligament.


endometrial squamous cell carcinoma

A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells.


glandular cell neoplasm

A benign or malignant, primary or metastatic epithelial neoplasm affecting the glandular cells.


ovarian clear cell cystadenocarcinoma

A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures.


uterine ligament endometrioid adenocarcinoma

A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis.


ephrin type-A receptor 3, signal peptide removed phosphorylated 1 (human)

An ephrin type-A receptor 3 (human) that has had the signal peptide removed and has been post-translationally modified to include phosphotyrosine at positions 596 and 602 of the amino acid sequence represented by UniProtKB:P29320. UniProtKB:P29320, 21-983, Tyr-596/Tyr-602, MOD:00048.


isoflavonoid

Any 1-benzopyran with an aryl substituent at position 3. The term was originally restricted to natural products, but is now also used to describe semi-synthetic and fully synthetic compounds.


isoflavones

Any isoflavonoid with a 3-aryl-1-benzopyran-4-one (3-aryl-4H-chromen-4-one) skeleton and its substituted derivatives.


glycosyloxyisoflavone

A member of the class of isoflavones having one or more glycosyl residues attached at unspecified positions.


Any methoxyisoflavone which has a methoxy group at the 4-position of the phenyl substituent.


hydroxyisoflavanone

Any member of the class of isoflavanones with at least one hydroxy substituent.


methoxyisoflavanone

Members of the class of isoflavanones with at least one methoxy substituent.


methoxyisoflavone

Members of the class of isoflavones with at least one methoxy substituent.


The simplest member of the class of 7-hydroxyisoflavones that is isoflavone with a hydroxy substituent at position 7.


Any methoxyisoflavone that has a methoxy group at the 7-position of the isoflavone moiety.


hydroxyisoflavans

A member of the class of isoflavans in which one or more ring hydrogens are replaced by hydroxy groups.


isoflavans

Any isoflavonoid with a 3,4-dihydro-3-aryl-2H-1-benzopyran skeleton and its substituted derivatives.


A hydroxyisoflavone compound having a hydroxy group at the 7-position.


isoflavanones

Members of the class of isoflavans that have a 3,4-dihydro-3-aryl-2H-1-benzopyran-4-one skeleton and its substituted derivatives.


hydroxyisoflavone

Member of the class of isoflavones bearing at least one hydroxy group.


A glycosyloxyisoflavone that is any 7-hydroxyisoflavone compound in which the 7-hydroxy group has been converted into its corresponding O-beta-D-glucoside.


Unresectable Lung Small Cell Carcinoma

Small cell lung carcinoma that is not amenable to surgical resection.


testis anion transporter 1 isoform h3 (human)

A testis anion transporter 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96RN1-3.


adrenal gland hyperfunction

Excess production of adrenal cortex hormones.


CEACAM1a-2S, signal peptide removed N-glycosylasparagine form (mouse)

A CEACAM1a-2S, signal peptide removed form (mouse) that includes at least one N-glycosylasparagine. UniProtKB:P31809-4, 35-278, MOD:00160.


CEACAM1a-2S (mouse)

A carcinoembryonic antigen-related cell adhesion molecule 1 sequence variant CEACAM1a (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q3LFS8. This form contains the two copies of the Ig domain and is the version with shorter cytoplasmic tail.


CEACAM1a-2S, signal peptide removed form (mouse)

A CEACAM1a-2S (mouse) that has had the signal peptide removed. UniProtKB:P31809-4, 35-278.


NAD(P)H dehydrogenase [quinone] 1 isoform 1 (human)

An NAD(P)H dehydrogenase [quinone] 1 isoform 1 that is encoded in the genome of human.


NAD(P)H dehydrogenase [quinone] 1 isoform 1 acetylated 1 (human)

An NAD(P)H dehydrogenase [quinone] 1 isoform 1 (human) that is N-terminal Met acetylated. UniProtKB:P15559-1, Met-1, MOD:00058.


dual specificity mitogen-activated protein kinase kinase 5 isoform A (human)

A dual specificity mitogen-activated protein kinase kinase 5 isoform 2 that is encoded in the genome of human.


A  dibenzoazepine that is 10,11-dihydro-5H-dibenzo[b,f]azepine-5-carboxamide substituted by hydroxy groups at positions 10 and 11. It is a metabolite of the drug carbamazepine.


Metastatic Ovarian Serous Adenocarcinoma

Ovarian serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


Unresectable Ovarian Serous Adenocarcinoma

Ovarian serous adenocarcinoma that is not amenable to surgical resection.


Unresectable Ovarian High Grade Serous Adenocarcinoma

Ovarian high-grade serous adenocarcinoma that is not amenable to surgical resection.


high grade serous adenocarcinoma of ovary

A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures.


Refractory Ovarian Low Grade Serous Adenocarcinoma

Ovarian low-grade serous adenocarcinoma that is resistant to treatment.