name: short transient receptor potential channel 6 isoform h3 (human)

description: 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.


name: short transient receptor potential channel 6 phosphorylated 1 (human)

description: A short transient receptor potential channel 6 (human) that has been phosphorylated on the residue at the position equivalent to Thr-402 of the amino acid sequence represented by UniProtKB:Q9Y210-1. Example: UniProtKB:Q9Y210-1, Thr-402, MOD:00047.


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

description: 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.


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

description: 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.


name: short transient receptor potential channel 6 isoform h2 (human)

description: 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.


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

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


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


name: Unresectable Cervical Adenosquamous Carcinoma

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

description: Cervical adenosquamous carcinoma that is not amenable to surgical resection.


name: deoxyhypusine synthase methylated 1 (human)

description: A deoxyhypusine synthase (human) that has been methylated on the residue at the position equivalent to Cys-275 of the amino acid sequence represented by UniProtKB:P49366-1. Example: UniProtKB:P49366-1, Cys-275, MOD:00660.


name: deoxyhypusine synthase isoform Long (human)

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


name: deoxyhypusine synthase isoform Short (human)

description: 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.


name: deoxyhypusine synthase isoform h3 (human)

description: 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.


name: deoxyhypusine synthase deaminated 1 (human)

description: A deoxyhypusine synthase (human) that has been deaminated on the residue at the position equivalent to Asn-294 of the amino acid sequence represented by UniProtKB:P49366-1. Example: UniProtKB:P49366-1, Asn-294, MOD:00684.


diacylglycerol 35:2

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


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

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


name: electrogenic sodium bicarbonate cotransporter 1 isoform 1 (human)

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


Recurrent Unspecified Lung Carcinoma

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


Large cell lung cancer recurrent

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


name: Recurrent Lung Non-Small Cell Squamous Carcinoma

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


Recurrent Bronchogenic Carcinoma

description: The reemergence of bronchogenic carcinoma after a period of remission.


name: Locally Recurrent Lung Non-Small Cell Carcinoma

description: The reemergence of lung non-small cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.


Non-small cell lung cancer recurrent

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


name: Recurrent Lung Non-Squamous Non-Small Cell Carcinoma

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


name: Adenosquamous cell lung cancer recurrent

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


Lung adenocarcinoma recurrent

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


Small cell lung cancer recurrent

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


Lung squamous cell carcinoma recurrent

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


name: Recurrent Extensive Stage Lung Small Cell Carcinoma

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


name: protein tweety homolog 2 deaminated 1 (human)

description: A protein tweety homolog 2 (human) that has been deaminated on the residue at the position equivalent to Gln-184 of the amino acid sequence represented by UniProtKB:Q9BSA4-1. Example: UniProtKB:Q9BSA4-1, Gln-184, MOD:00685.


name: protein tweety homolog 2 isoform h2 (human)

description: 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.


name: protein tweety homolog 2 isoform h1 (human)

description: 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.


name: katanin p60 ATPase-containing subunit A-like 1

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


name: GPI transamidase component PIG-S isoform h2 (human)

description: 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.


name: E3 ubiquitin-protein ligase HERC2 cysteinylated 3 (human)

description: An E3 ubiquitin-protein ligase HERC2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-558 of the amino acid sequence represented by UniProtKB:O95714. UniProtKB:O95714, Cys-558, MOD:00765.


name: DNA polymerase beta unacetylated 1 (human)

description: 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.


catenin beta-1 deaminated 6 (human)

A catenin beta-1 (human) that has been deaminated on the residue at the position equivalent to Asn-121 of the amino acid sequence represented by UniProtKB:P35222. UniProtKB:P35222, Asn-121, MOD:00684.


name: histone-lysine N-methyltransferase SETDB1 methylated 1 (human)

description: A histone-lysine N-methyltransferase SETDB1 (human) that has been methylated on the residue at the position equivalent to Cys-830 of the amino acid sequence represented by UniProtKB:Q15047-1. Example: UniProtKB:Q15047-1, Cys-830, MOD:00660.


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.


name: methylmalonic aciduria type A protein, mitochondrial sequence variant Y207C, transit peptide removed form (human)

description: A methylmalonic aciduria type A protein, mitochondrial (human) that has a Cys residue at the position equivalent to Tyr-207 of the amino acid sequence represented by UniProtKB:Q8IVH4 and that has had the transit peptide removed. UniProtKB:Q8IVH4, 66-418, Tyr-207, CHEBI:29950.


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 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.


name: sphingosine kinase 2 deaminated 1 (human)

description: A sphingosine kinase 2 (human) that has been deaminated on the residue at the position equivalent to Gln-599 of the amino acid sequence represented by UniProtKB:Q9NRA0-1. Example: UniProtKB:Q9NRA0-1, Gln-599, MOD:00685.


name: sphingosine kinase 2 cysteinylated 1 (human)

description: A sphingosine kinase 2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-304 of the amino acid sequence represented by UniProtKB:Q9NRA0-1. Example: UniProtKB:Q9NRA0-1, Cys-304, MOD:00765.


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.


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

description: 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.


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

description: 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.


name: C-1-tetrahydrofolate synthase, cytoplasmic deaminated 2 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has been deaminated on the residue at the position equivalent to Gln-807 of the amino acid sequence represented by UniProtKB:P11586. UniProtKB:P11586, Gln-807, MOD:00685.


name: C-1-tetrahydrofolate synthase, cytoplasmic deaminated 1 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has been deaminated on the residue at the position equivalent to Asn-932 of the amino acid sequence represented by UniProtKB:P11586. UniProtKB:P11586, Asn-932, MOD:00684.


name: C-1-tetrahydrofolate synthase, cytoplasmic methylated 2 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has been methylated on the residue at the position equivalent to Cys-691 of the amino acid sequence represented by UniProtKB:P11586. UniProtKB:P11586, Cys-691, MOD:00660.


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

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


name: C-1-tetrahydrofolate synthase, cytoplasmic methylated 1 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has been methylated on the residue at the position equivalent to Cys-918 of the amino acid sequence represented by UniProtKB:P11586. UniProtKB:P11586, Cys-918, MOD:00660.


name: C-1-tetrahydrofolate synthase, cytoplasmic deaminated 3 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has been deaminated on the residue at the position equivalent to Gln-285 of the amino acid sequence represented by UniProtKB:P11586. UniProtKB:P11586, Gln-285, MOD:00685.


name: C-1-tetrahydrofolate synthase, cytoplasmic cysteinylated 1 (human)

description: A C-1-tetrahydrofolate synthase, cytoplasmic (human) that has been cysteinylated on the residue at the position equivalent to Cys-691 of the amino acid sequence represented by UniProtKB:P11586. UniProtKB:P11586, Cys-691, MOD:00765.


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

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


name: hydroxyacylglutathione hydrolase-like protein isoform h3 (human)

description: 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.


name: methionine aminopeptidase 1D, mitochondrial isoform 1 (human)

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


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

description: A methylmalonate-semialdehyde/malonate-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.


name: carbonic anhydrase 1, initiator methionine removed form (human)

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


name: ephrin type-B receptor 4 isoform h2 (human)

description: 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.


protein RCC2 methylated 4 (human)

A protein RCC2 (human) that has been methylated on the residue at the position equivalent to Cys-337 of the amino acid sequence represented by UniProtKB:Q9P258. UniProtKB:Q9P258, Cys-337, MOD:00660.


name: collagen alpha-1(I) chain, signal peptide removed 4-hydroxy-proline and galactosylhydroxylysine form (human)

description: A collagen alpha-1(I) chain (human) that has had the signal peptide removed and that includes at least 1 galactosylhydroxylated lysine and at least 3 4-hydroxy-prolines. UniProtKB:P02452, 23-1464, MOD:00039(3+)|MOD:01914.


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

description: 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.


name: phosphatidylinositol transfer protein beta isoform deaminated 1 (human)

description: A phosphatidylinositol transfer protein beta isoform (human) that has been deaminated on the residue at the position equivalent to Asn-124 of the amino acid sequence represented by UniProtKB:P48739-1. Example: UniProtKB:P48739-1, Asn-124, MOD:00684.


name: monoacylglycerol lipase ABHD2 methylated 1 (human)

description: A monoacylglycerol lipase ABHD2 (human) that has been methylated on the residue at the position equivalent to Cys-405 of the amino acid sequence represented by UniProtKB:P08910. UniProtKB:P08910, Cys-405, MOD:00660.


name: histone-lysine N-methyltransferase EHMT2 methylated 4 (human)

description: A histone-lysine N-methyltransferase EHMT2 (human) that has been methylated on the residue at the position equivalent to Cys-743 of the amino acid sequence represented by UniProtKB:Q96KQ7-1. Example: UniProtKB:Q96KQ7-1, Cys-743, MOD:00660.


name: histone-lysine N-methyltransferase ASH1L phosphorylated 4 (human)

description: A histone-lysine N-methyltransferase ASH1L (human) that has been phosphorylated on the residue at the position equivalent to Thr-1392 of the amino acid sequence represented by UniProtKB:Q9NR48-1. Example: UniProtKB:Q9NR48-1, Thr-1392, MOD:00047.


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

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


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

description: 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.


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

description: 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.


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

description: 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.


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

description: 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.


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

description: 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.


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

description: 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.


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

description: 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.


arylsulfatase H deaminated 1 (human)

An arylsulfatase H (human) that has been deaminated on the residue at the position equivalent to Gln-336 of the amino acid sequence represented by UniProtKB:Q5FYA8. UniProtKB:Q5FYA8, Gln-336, MOD:00685.


name: ALK tyrosine kinase receptor sequence variant L1196N, signal peptide removed form (human)

description: An ALK tyrosine kinase receptor (human) that has an Asn residue at the position equivalent to Leu-1196 of the amino acid sequence represented by UniProtKB:Q9UM73 and that has had the signal peptide removed. UniProtKB:Q9UM73, 19-1620, Leu-1196, CHEBI:50347.


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

description: 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.


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

description: 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.


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

description: 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.


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

description: 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.


name: fibroblast growth factor receptor 2 sequence variant N549H, signal peptide removed form (human)

description: A fibroblast growth factor receptor 2 (human) that has a His residue at the position equivalent to Asn-549 of the amino acid sequence represented by UniProtKB:P21802-1 and that has had the signal peptide removed. Example: UniProtKB:P21802-1, 22-821, Asn-549, CHEBI:29979.


name: activating signal cointegrator 1 complex subunit 3 methylated 3 (human)

description: An activating signal cointegrator 1 complex subunit 3 (human) that has been methylated on the residue at the position equivalent to Cys-1343 of the amino acid sequence represented by UniProtKB:Q8N3C0-1. Example: UniProtKB:Q8N3C0-1, Cys-1343, MOD:00660.


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


nephrocalcinosis

description: 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

description: A disease involving the kidney.


cystinosis

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


digestive system disorder

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


mucinous adenocarcinoma of the appendix

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


colon Kaposi sarcoma

description: A Kaposi sarcoma arising from the colon.


cholangitis

description: An acute or chronic inflammatory process affecting the biliary tract.


anal canal adenocarcinoma

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


digestive system carcinoma

description: 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.


lipoatrophic diabetes

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


fibrolamellar hepatocellular carcinoma

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


cholecystitis

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


name: diabetes mellitus, noninsulin-dependent, 5

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


intestinal cancer

description: A malignant neoplasm involving the intestine


descending colon cancer

description: A malignant neoplasm involving the descending colon.


hepatic flexure cancer

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


colorectal medullary carcinoma

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


hereditary gastric cancer

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


name: autoimmune disorder of gastrointestinal tract

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


congenital sodium diarrhea

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


anal margin carcinoma

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


Lynch syndrome 5

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


name: colon small cell neuroendocrine carcinoma

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


cirrhosis, familial

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


name: carcinoma of liver and intrahepatic biliary tract

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


gastric carcinoma

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


name: diabetes mellitus, noninsulin-dependent, 3


colon Burkitt lymphoma

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


familial intrahepatic cholestasis

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


cecum lymphoma

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


diabetes mellitus

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


cirrhosis of liver

description: 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

description: A in situ carcinoma that involves the caecum.


non-neoplastic bile duct disorder

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


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


diarrheal disease

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


name: submucosal invasive colon adenocarcinoma

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


name: congenital sucrase-isomaltase deficiency without sucrose intolerance


biliary tract disorder

description: A disease involving the biliary tree.


sigmoid colon cancer

description: A malignant neoplasm involving the sigmoid colon.


malabsorption syndrome

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


gastric neoplasm

description: A benign or malignant neoplasm involving the stomach.


sclerosing hepatic carcinoma

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


hereditary nonpolyposis colon cancer

description: 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

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


anal verrucous carcinoma

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


congenital isolated hyperinsulinism

description: 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

description: 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

description: 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

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


colon sarcoma

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


malignant colon neoplasm

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


biliary atresia

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


anus rhabdomyosarcoma

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


rectal carcinoma

description: 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

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


colon carcinoma

description: A carcinoma that arises from epithelial cells of the colon


splenic flexure cancer

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


rectum malignant melanoma

description: An aggressive malignant melanocytic neoplasm that arises from the rectum.


name: congenital sucrase-isomaltase deficiency with starch intolerance


rectal adenosquamous carcinoma

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


name: colon mucosa-associated lymphoid tissue lymphoma

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


appendix lymphoma

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


rectosigmoid junction cancer

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


autosomal erythropoietic protoporphyria

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


malignant exocrine pancreas neoplasm

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


name: POLE-related polyposis and colorectal cancer syndrome

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


anus sarcoma

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


pancreatic neoplasm

description: A benign or malignant neoplasm involving the pancreas.


appendix cancer

description: A malignant neoplasm involving the vermiform appendix


neuroendocrine tumor of the anal canal

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


name: metastasis from malignant tumor of colon


liver failure

description: A liver disease characterized by the liver losing or has lost all of its function.


name: diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency


gallbladder disorder

description: A disease involving the gall bladder.


hepatobiliary neoplasm

description: 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

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


squamous cell carcinoma of rectum

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


primary biliary cholangitis

description: 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

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


colon medullary carcinoma

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


rectal medullary carcinoma

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


cloacogenic carcinoma

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


appendix mucinous cystadenocarcinoma

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


anus adenocarcinoma

description: 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

description: Paget disease involving the perianal skin.


cecum adenocarcinoma

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


anal canal Paget disease

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


anal melanoma

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


name: colorectal cancer, hereditary nonpolyposis, type 6

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


pseudomyxoma peritonei

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


ascending colon cancer

description: A malignant neoplasm involving the ascending colon.


Lynch syndrome 8

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


bile duct disorder

description: A disease involving the bile duct.


liver disorder

description: A disease involving the liver.


anus basaloid carcinoma

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


monogenic diabetes

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


latent autoimmune diabetes in adults

description: 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

description: 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

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


pancreas disorder

description: 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

description: A Kaposi sarcoma arising from the rectum.


autoimmune enteropathy

description: 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

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


anal Paget disease

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


carcinoma in situ of appendix

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


large intestine disorder

description: A disease that involves the large intestine.


goblet cell carcinoma

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


Lynch syndrome 1

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


colon leiomyosarcoma

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


Lynch syndrome 2

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


anus cancer

description: A malignant neoplasm involving the anus


digestive system cancer

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


anal canal neuroendocrine neoplasm

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


name: congenital sucrase-isomaltase deficiency with minimal starch tolerance


Lynch syndrome 4

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


cecum cancer

description: A malignant neoplasm involving the caecum


name: colorectal diffuse large B-cell lymphoma

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


hyperinsulinism

description: Abnormally high levels of insulin in the blood.


esophagitis

description: An acute or chronic inflammatory disease affecting the esophageal wall.


liver diffuse large B-cell lymphoma

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


anus lymphoma

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


anal mucinous adenocarcinoma

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


colorectal signet ring cell carcinoma

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


cholestasis

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


eosinophilic esophagitis

description: 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

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


erythropoietic protoporphyria

description: 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.


name: autosomal recessive hyperinsulinism due to SUR1 deficiency


familial hyperinsulinism

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


endocrine pancreas disorder

description: A disease involving the endocrine pancreas.


mixed hepatoblastoma

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


colorectal neoplasm

description: 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.


name: diabetes mellitus, noninsulin-dependent, 4


rectum carcinoma in situ

description: A in situ carcinoma that involves the rectum.


inflammatory bowel disease

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


hereditary gallbladder disorder

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


diffuse gastric adenocarcinoma

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


name: progressive familial intrahepatic cholestasis

description: 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.


colorectal carcinoma

description: 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.


name: liver and intrahepatic bile duct neoplasm

description: 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

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


adult hepatocellular carcinoma

description: 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

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


macrotrabecular hepatoblastoma

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


acute liver failure

description: Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections.


colorectal squamous cell carcinoma

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


rectosigmoid carcinoma

description: 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

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


hepatoblastoma

description: 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.


name: mixed fibrolamellar hepatocellular carcinoma

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


intestinal disorder

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


rectal signet ring cell adenocarcinoma

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


colorectal adenocarcinoma

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


squamous cell carcinoma of colon

description: A squamous cell carcinoma that involves the colon.


rectal sarcomatoid carcinoma

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


familial colorectal cancer

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


appendix carcinoma

description: A carcinoma that arises from epithelial cells of the vermiform appendix


anal margin basal cell carcinoma

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


anal margin squamous cell carcinoma

description: A squamous cell carcinoma arising from the perianal skin.


name: diabetes mellitus, noninsulin-dependent, 2


anal canal carcinoma in situ

description: A carcinoma in situ involving a anal canal.


colon carcinoma in situ

description: A in situ carcinoma that involves the colon.


rectum sarcoma

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


colorectal adenosquamous carcinoma

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


rectum rhabdomyosarcoma

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


name: colorectal cancer, hereditary nonpolyposis, type 7

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


name: congenital sucrase-isomaltase deficiency without starch intolerance


cecum carcinoma

description: A carcinoma that arises from epithelial cells of the caecum


gastric cancer

description: A primary or metastatic malignant neoplasm involving the stomach.


name: diabetes mellitus, noninsulin-dependent, 1


anal squamous cell carcinoma

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


anal gland adenocarcinoma

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


intestinal disaccharidase deficiency

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


esophageal disorder

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


name: POLD1-related polyposis and colorectal cancer syndrome

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


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


malignant pancreatic neoplasm

description: A malignant neoplasm involving the pancreas.


anal carcinoma

description: A carcinoma that arises from epithelial cells of the anus


rectum leiomyosarcoma

description: 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

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


transverse colon cancer

description: A malignant neoplasm involving the transverse colon.


colorectal lymphoma

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


intrahepatic cholestasis

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


colon mucinous adenocarcinoma

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


glucose intolerance

description: The inability to regulate blood glucose levels resulting in hyperglycemia.


rectum mucinous adenocarcinoma

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


hepatic porphyria

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


gastric adenocarcinoma

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


Muir-Torre syndrome

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


liver cancer

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


exocrine pancreatic carcinoma

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


pancreatic exocrine neoplasm

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


intestinal neoplasm

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


colon signet ring cell adenocarcinoma

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


colon adenocarcinoma

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


rectal cancer

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


colorectal Kaposi sarcoma

description: A Kaposi sarcoma that arises from the colon or rectum.


anal canal squamous cell carcinoma

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


hepatobiliary disorder

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


anal canal carcinoma

description: A carcinoma that arises from epithelial cells of the anal canal


stomach disorder

description: A disease involving the stomach.


anus leiomyosarcoma

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


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

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


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

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


name: cholesteryl ester transfer protein isoform h2 (human)

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


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

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


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

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


name: cholesteryl ester transfer protein isoform h1 (human)

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


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.


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

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


name: voltage-dependent calcium channel gamma-5 subunit

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


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

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


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

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


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

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


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

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


ELAEODENDROSIDE W

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


dysgerminoma of ovary

description: 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

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


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

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


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

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


spermine oxidase isoform 1 (human)

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


spermine oxidase

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


spermine oxidase isoform 6 (human)

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


spermine oxidase isoform h2 (human)

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


spermine oxidase isoform h5 (human)

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


spermine oxidase isoform 3 (human)

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


spermine oxidase isoform h4 (human)

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


name: protocadherin gamma-B1 cysteinylated 1 (human)

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


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

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


Anterior Pituitary Gland Neoplasm

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


name: Pituitary Neuroendocrine Tumor of PIT1-Lineage

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


pituitary gland adenoma

description: 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.


name: prolactin-producing pituitary gland carcinoma

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


name: Densely Granulated Lactotroph Pituitary Neuroendocrine Tumor

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


name: Sparsely Granulated Lactotroph Pituitary Neuroendocrine Tumor

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


name: ubiquitin-like domain-containing CTD phosphatase 1

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


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

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


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

description: 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.


name: tyrosine-protein kinase SYK cysteinylated 1 (human)

description: A tyrosine-protein kinase SYK (human) that has been cysteinylated on the residue at the position equivalent to Cys-608 of the amino acid sequence represented by UniProtKB:P43405-1. Example: UniProtKB:P43405-1, Cys-608, MOD:00765.


name: tyrosine-protein kinase SYK isoform Short (human)

description: 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.


name: tyrosine-protein kinase SYK deaminated 1 (human)

description: A tyrosine-protein kinase SYK (human) that has been deaminated on the residue at the position equivalent to Asn-499 of the amino acid sequence represented by UniProtKB:P43405-1. Example: UniProtKB:P43405-1, Asn-499, MOD:00684.


name: tyrosine-protein kinase SYK phosphotyrosine form (human)

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


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

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


name: tyrosine-protein kinase SYK phosphorylated 3 (human)

description: 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.


name: mitogen-activated protein kinase kinase kinase 20 methylated 2 (human)

description: A mitogen-activated protein kinase kinase kinase 20 (human) that has been methylated on the residue at the position equivalent to Arg-670 of the amino acid sequence represented by UniProtKB:Q9NYL2-1. Example: UniProtKB:Q9NYL2-1, Arg-670, MOD:00658.


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.


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

description: 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.


name: alanine aminotransferase 2 isoform h2 (human)

description: 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.


name: alanine aminotransferase 2 isoform h1 pyridoxal phosphate lysine 1 (human)

description: An alanine aminotransferase 2 isoform h1 (human) that has been pyridoxal phosphate lysine on the residue at the position equivalent to Lys-341 of the amino acid sequence represented by UniProtKB:Q8TD30-1. UniProtKB:Q8TD30-1, Lys-341, MOD:00128.


name: alanine aminotransferase 2 phosphorylated 1 (human)

description: An alanine aminotransferase 2 (human) that has been phosphorylated on the residue at the position equivalent to Ser-224 of the amino acid sequence represented by UniProtKB:Q8TD30-1. Example: UniProtKB:Q8TD30-1, Ser-224, MOD:00046.


name: alanine aminotransferase 1 isoform 1 (human)

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


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

description: 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.


name: alanine aminotransferase 2 isoform h1 (human)

description: 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.


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

description: 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.


name: myeloperoxidase N-glycosylated 8 (human)

description: 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

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


ovarian endometrioid adenocarcinoma

description: 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

description: 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

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


ovarian carcinoma

description: 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

description: 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

description: 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

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


prostate cancer, hereditary, 2

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


name: ovarian large-cell neuroendocrine carcinoma

description: 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

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


name: oxyphilic endometrial endometrioid adenocarcinoma

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


name: cervical large cell neuroendocrine carcinoma

description: 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

description: 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

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


name: endometrial endometrioid adenocarcinoma with spindled epithelial cells

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


name: uterine ligament clear cell adenocarcinoma

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


name: endocervical type cervical mucinous adenocarcinoma

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


name: hypercalcemic type ovarian small cell carcinoma

description: 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.


name: pulmonary type ovarian small cell carcinoma

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


name: ovarian serous surface papillary adenocarcinoma

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


undifferentiated ovarian carcinoma

description: 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

description: 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

description: 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.


name: mucin-rich endometrial endometrioid adenocarcinoma


endometrial clear cell adenocarcinoma

description: A clear cell adenocarcinoma that involves the endometrium.


prostate cancer, hereditary, 13

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


rete ovarii adenocarcinoma

description: An exceptionally rare adenocarcinoma that arises from the rete ovarii.


ovarian small cell carcinoma

description: 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

description: 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

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


name: cervical keratinizing squamous cell carcinoma

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


endocervical adenocarcinoma

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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

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


name: villoglandular endometrial endometrioid adenocarcinoma

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


endometrial endometrioid adenocarcinoma

description: 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

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


endometrium carcinoma in situ

description: A carcinoma in situ involving a endometrium.


ovarian transitional cell carcinoma

description: 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

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


name: microinvasive cervical squamous cell carcinoma

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


Krukenberg carcinoma

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


adenocarcinoma

description: 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

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


endometrial mucinous adenocarcinoma

description: 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

description: 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.


name: primary peritoneal serous/papillary carcinoma

description: 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

description: 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

description: 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

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


ovarian clear cell adenocarcinoma

description: 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

description: 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

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


name: cervical non-keratinizing squamous cell carcinoma

description: 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

description: 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.


description: 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.


name: ovarian clear cell malignant adenofibroma

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


adenoma

description: 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

description: 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

description: 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

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


name: cervical adenosquamous carcinoma, glassy cell variant

description: 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

description: 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

description: 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

description: A papillary carcinoma that involves the uterine cervix.


name: ovarian endometrioid adenocarcinoma with squamous differentiation

description: 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

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


endometrial carcinoma

description: 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

description: 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.


name: uterine ligament mucinous adenocarcinoma

description: A rare mucinous adenocarcinoma that arises from the uterine ligament.