food protein-induced allergic proctocolitis

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


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

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


intestinal disaccharidase deficiency

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


gastric neuroendocrine tumor G2

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


gastric neuroendocrine neoplasm

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


epithelial tumor of anal canal

A epithelial neoplasm that involves the anal canal.


pancreatic serous cystadenoma

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


extrahepatic bile duct mucoepidermoid carcinoma

A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts.


Meckel diverticulitis

Inflammation of a congenital diverticulum of the lower intestine.


Peutz-Jeghers polyp

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


carcinoma of hard palate

A carcinoma that involves the hard palate.


perianal Crohn disease

An Crohn disease involving a pathogenic inflammatory response in the anal canal.


visceral leiomyopathy, African degenerative


inflammatory bowel disease 3

An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.


POLD1-related polyposis and colorectal cancer syndrome

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


pancreatic foamy gland adenocarcinoma

A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm.


inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive


congenital sucrase-isomaltase deficiency with starch and lactose intolerance


neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor

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


ALPI-related inflammatory bowel disease

Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene.


esophagus verrucous carcinoma

A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)


neonatal diabetes mellitus with congenital hypothyroidism

A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others


hepatic vascular disorder

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


neonatal inflammatory skin and bowel disease

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


gastric intestinal metaplasia

Metaplastic changes in the lining of the upper digestive tract.


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


malignant pancreatic neoplasm

A malignant neoplasm involving the pancreas.


hyperinsulinism-hyperammonemia syndrome

Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.


juvenile polyp

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


extrahepatic bile duct adenocarcinoma

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


polyp of colon

A polyp that involves the colon.


gallbladder biliary intraepithelial neoplasia

A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.


esophagus sarcoma

A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma.


permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.


squamous cell carcinoma of liver and intrahepatic biliary tract

Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.


rectum leiomyosarcoma

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


somatostatinoma

A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1.


mixed ductal-endocrine carcinoma of pancreas

A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites.


refractory celiac disease

Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia.


porphyria due to ALA dehydratase deficiency

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.


familial colorectal cancer type X

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


transverse colon cancer

A malignant neoplasm involving the transverse colon.


colorectal lymphoma

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


upper gum cancer

A cancer involving a gingiva of upper jaw.


signet ring cell gastric adenocarcinoma

A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.


primary desmosis coli

A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.


undifferentiated gallbladder carcinoma

A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma.


salivary gland carcinoma

A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.


intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.


squamous cell carcinoma of pancreas

A squamous cell carcinoma that involves the pancreas.


colon mucinous adenocarcinoma

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


proton-pump inhibitor-responsive esophageal eosinophilia

Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.


diabetes mellitus, transient neonatal, 3

Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.


hereditary diffuse gastric adenocarcinoma

An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.


small intestinal Burkitt lymphoma

A Burkitt lymphoma that arises from the small intestine.


idiopathic achalasia

A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.


gastric gastrin-producing neuroendocrine tumor

A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome.


Meckel diverticulum cancer

A cancer involving a Meckel's diverticulum.


chronic diarrhea due to glucoamylase deficiency

This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency.


gallbladder squamous cell carcinoma

A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells.


biliary atresia intrahepatic syndromic form


esophageal varices without bleeding

Evidence of esophageal varices without bleeding.


pancreatic intraductal papillary-mucinous carcinoma

A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations.


diphtheritic peritonitis

A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.


rectum mucinous adenocarcinoma

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


benign recurrent intrahepatic cholestasis type 1

Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.


Muir-Torre syndrome

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


cecum villous adenoma

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


infantile liver failure syndrome 2

Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.


pancreatic exocrine neoplasm

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


hereditary North American Indian childhood cirrhosis

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


rectal tubular adenoma

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


immature gastric teratoma

A malignant teratoma that arises from the stomach.


appendix adenoma

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


intestinal neoplasm

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


idiopathic copper-associated cirrhosis

Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.


jejunal somatostatinoma

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


inflammatory bowel disease 2

An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1.


duodenum cancer

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


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.


colon signet ring cell adenocarcinoma

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


jejunal neuroendocrine tumor G1

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


squamous cell carcinoma of lip

A squamous cell carcinoma that involves the lip.


ileocolitis

Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.


sigmoid disease

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


liver adenosquamous carcinoma

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


duodenogastric reflux

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


laryngotracheoesophageal cleft type 4

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


lipoma of stomach

A lipoma that involves the stomach.


maturity-onset diabetes of the young type 4

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


small intestine neuroendocrine neoplasm

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


Alagille syndrome due to 20p12 microdeletion


appendix neuroendocrine neoplasm

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


maxillary sinus carcinoma

A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma.


hepatoerythropoietic porphyria

A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.


gastric fundus carcinoma

A carcinoma that arises from epithelial cells of the fundus of stomach.


intestinal atresia

A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine.


microvillus inclusion disease

Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.


appendiceal neoplasm

A benign or malignant neoplasm involving the appendix.


Waardenburg syndrome type 4B

A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.


liver angiosarcoma

A malignant vascular neoplasm arising from the liver.


perinatal necrotizing enterocolitis

A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract.


oral cavity carcinoma

A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.


rectosigmoid junction neoplasm

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


colorectal Kaposi sarcoma

A Kaposi sarcoma that arises from the colon or rectum.


pancreatic endocrine carcinoma

An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.


anal canal squamous cell carcinoma

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


gastric adenocarcinoma and proximal polyposis of the stomach

A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder.


undifferentiated carcinoma of liver and intrahepatic biliary tract

Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.


pancreatic tubular adenocarcinoma

A tubular adenocarcinoma that involves the pancreas.


small intestinal intraepithelial neoplasia

A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion.


inflammatory bowel disease 26

An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15.


chemical colitis

A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically.


gastric leiomyoma

A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT).


cholangiolocellular carcinoma

An intrahepatic cholangiocarcinoma that arises from the canals of Hering.


gastric liposarcoma

A malignant adipose tissue neoplasm of the stomach.


anal canal carcinoma

A carcinoma that arises from epithelial cells of the anal canal


insulin-resistance syndrome type B

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


colon juvenile polyp

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


cutaneous photosensitivity-lethal colitis syndrome

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


intestinal motility disease

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


bacterial gastritis

Gastritis resulting from bacteria.


benign neoplasm of appendix

A benign neoplasm that involves the vermiform appendix.


anus leiomyosarcoma

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


liver adenomatosis

A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.


megacystis-microcolon-intestinal hypoperistalsis syndrome 5


Epstein-Barr virus hepatitis

A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice.


acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.


benign recurrent intrahepatic cholestasis

Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).


xanthogranulomatous cholecystitis

Cholecystitis that is characterized by nodules containing lipid.


opioid-induced constipation

A constipation disorder caused by use of opiods. OIC may present immediately when a patient takes the opioid, or it may present gradually during opioid therapy.


X-linked erythropoietic protoporphyria

X-linked form of erythropoietic protoporphyria.


jejunal adenocarcinoma

A adenocarcinoma that involves the jejunum.


VIPoma

VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).


Waardenburg syndrome type 4A

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


Lugano Classification Stage IV Adult Non-Hodgkin Lymphoma AJCC v8

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


two pore channel protein 1 isoform h1 (human)

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


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

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


signal transducer and activator of transcription 5a

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


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

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


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

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


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

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


Cryogenic Burn

Local tissue damage due to exposure to extreme cold.


Supratentorial Gliosarcoma

A gliosarcoma arising from the supratentorial region.


Cerebral Glioblastoma

A glioblastoma that occurs in the cerebrum.


Heart Rupture, Post-Infarction

Tearing of the heart muscle as a sequela of acute myocardial infarction.


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

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.


benign granular cell tumor

A granular cell tumor that is confined to the site of origin, without metastatic potential.


cardiac granular cell neoplasm

A very rare granular cell tumor that arises from the heart.


benign peripheral nerve granular cell tumor

A benign granular cell tumor that involves the nerve.


Multiple hamartoma of lung

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


Increased CSF alanine concentration

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

Abnormally increased levels of alanine in cerebrospinal fluid.


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

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


Glutathionuria

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


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

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


Increased level of galactitol in red blood cells

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


dysgerminoma of ovary

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


pediatric ovarian dysgerminoma

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


proteasome subunit beta type-5 isoform h3 (human)

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


tyrosine-protein kinase JAK3 phosphorylated 2 (human)

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.


phosphatidylethanolamine-binding protein 1 isoform 1 (human)

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


Low serum calcitriol

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


Decreased circulating calcifediol concentration

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


Infant-Type Hemispheric Glioma, ROS1-Altered

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


Dermal flame figures

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


Grade 5 Intraoperative Ear Injury, CTCAE

Death


Intraoperative Ear Injury, CTCAE

A finding of damage to the ear during a surgical procedure.


Grade 2 Intraoperative Ear Injury, CTCAE

Partial resection of injured organ/structure indicated


Grade 3 Intraoperative Ear Injury, CTCAE

Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL (e.g., impaired hearing; impaired balance)


Grade 4 Intraoperative Ear Injury, CTCAE

Life-threatening consequences; urgent intervention indicated


Grade 1 Intraoperative Ear Injury, CTCAE

Primary repair of injured organ/structure indicated


FSH-Producing Pituitary Neuroendocrine Tumor

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


Anterior Pituitary Gland Neoplasm

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


Immature PIT1 Lineage Pituitary Neuroendocrine Tumor

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


Pituitary Neuroendocrine Tumor without Distinct Lineage Differentiation

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


Locally Advanced Pituitary Neuroendocrine Tumor

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


Somatotroph-Lactotroph Pituitary Neuroendocrine Tumor

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


Pituitary Neuroendocrine Tumor of PIT1-Lineage

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


pituitary gland adenoma

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


Densely Granulated Corticotroph Pituitary Neuroendocrine Tumor

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


Pituitary Neuroendocrine Tumor of SF1-Lineage

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


Pituitary Neuroendocrine Tumor, Not Otherwise Specified

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


Crooke Cell Tumor

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


Mammosomatotroph Pituitary Neuroendocrine Tumor

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


Null Cell Pituitary Neuroendocrine Tumor

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


LH-Producing Pituitary Neuroendocrine Tumor

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


non-functioning pituitary adenoma

A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome.


Pituitary macroadenoma

A pituitary gland adenoma that is larger than 10mm.


growth hormone-producing pituitary gland adenoma

An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.


Plurimorphous Plurihormonal Pituitary Neuroendocrine Tumor

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


Non-Functioning Densely Granulated Corticotroph Pituitary Neuroendocrine Tumor

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


ACTH-producing pituitary gland carcinoma

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


Non-Functioning Pituitary Neuroendocrine Tumor/Macroadenoma

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


pituitary blastoma

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


mixed somatotroph-lactotroph pituitary gland adenoma

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


Functioning Pituitary Neuroendocrine Tumor/Macroadenoma

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


Functioning Pituitary Neuroendocrine Tumor/Microadenoma

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


Recurrent Anterior Pituitary Gland Neoplasm

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


pituitary adenocarcinoma

A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly.


Double Pituitary Neuroendocrine Tumors of Distinct Lineages

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


Non-Functioning Corticotroph Pituitary Neuroendocrine Tumor

Corticotroph pituitary neuroendocrine tumor not associated with a hormonal syndrome.


prolactin-producing pituitary gland carcinoma

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


growth hormone-producing pituitary gland carcinoma

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


Monomorphous Plurihormonal Pituitary Neuroendocrine Tumor

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


Ectopic Pituitary Neuroendocrine Tumor

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


Acidophil Stem Cell Pituitary Neuroendocrine Tumor

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


ACTH-producing pituitary gland adenoma

An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion.


Non-Functioning Pituitary Neuroendocrine Tumor/Microadenoma

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


Pituitary Neuroendocrine Tumor of TPIT-Lineage

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


Sparsely Granulated Somatotroph Pituitary Neuroendocrine Tumor

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


Densely Granulated Lactotroph Pituitary Neuroendocrine Tumor

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


Sparsely Granulated Lactotroph Pituitary Neuroendocrine Tumor

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


Metastatic Unresectable Pituitary Neuroendocrine Tumor

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


Plurihormonal Pituitary Neuroendocrine Tumor

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


Mature Plurihormonal PIT1 Lineage Pituitary Neuroendocrine Tumor

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


prolactin-producing pituitary gland adenoma

Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.


Sparsely Granulated Corticotroph Pituitary Neuroendocrine Tumor

A corticotroph pituitary neuroendocrine tumor composed of faintly basophilic or chromophobic PAS-positive cells with weak or patchy positivity for ACTH, consistent with the scant, small secretory granules seen ultrastructurally. (WHO)


Atypical Pituitary Neuroendocrine Tumor

A usually aggressive and invasive pituitary neuroendocrine tumor characterized by excessive p53 immunoreactivity, increased mitotic activity, and MIB-1 proliferative index greater than 3%.


Densely Granulated Somatotroph Pituitary Neuroendocrine Tumor

A growth hormone-producing pituitary neuroendocrine tumor composed of medium-sized acidophilic cells with granular cytoplasm and abundant secretory granules.


A pituitary neuroendocrine tumor with a diameter equal or less than 10 mm.


Multiple Synchronous Pituitary Neuroendocrine Tumors of Distinct Lineages

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


Non-Functioning Sparsely Granulated Corticotroph Pituitary Neuroendocrine Tumor

A sparsely granulated corticotroph pituitary neuroendocrine tumor not associated with a hormonal syndrome.


Nasopharyngeal Pituitary Neuroendocrine Tumor

An ectopic pituitary neuroendocrine tumor that arises from the nasopharynx.


Mixed Gangliocytoma-Pituitary Neuroendocrine Tumor

A pituitary neoplasm composed of mature ganglionic cells admixed with pituitary neoplastic neuroendocrine cells.


unexplained long-lasting fever/inflammatory syndrome


Fractured proximal epiphysis of first metacarpal bone

A partial or complete breakage of the proximal epiphysis of first metacarpal bone.


Advanced Extramammary Paget Disease

Extramammary Paget disease that has spread extensively to other anatomic sites or is no longer responding to treatment.


extramammary Paget disease

A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.


vulval Paget disease

An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei.


scrotum Paget disease

A mammary Paget's disease that involves the scrotum.


Recurrent Paget Disease of the Anal Canal

The reemergence of Paget disease of the anal canal after a period of remission.


Recurrent Extramammary Paget Disease

The reemergence of extramammary Paget disease after a period of remission.


Metastatic Extramammary Paget Disease

Extramammary Paget disease that has spread from the original site of growth to other anatomic sites.


Paget disease of the penis

A premalignant condition morphologically characterized by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003


Refractory Extramammary Paget Disease

Extramammary Paget disease that is resistant to treatment.


tyrosine-protein kinase SYK cysteinylated 1 (human)

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.


tyrosine-protein kinase SYK isoform Short (human)

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


tyrosine-protein kinase SYK deaminated 1 (human)

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.


tyrosine-protein kinase SYK phosphotyrosine form (human)

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


tyrosine-protein kinase SYK phosphorylated 2 (human)

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


tyrosine-protein kinase SYK phosphorylated 3 (human)

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


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

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.


Intracellular accumulation of collagen VII

Collagen VII is the major molecular constituent of anchoring fibrils in the skin. Collagen VII is synthesized as three identical pro-alpha1(VII) polypeptide chains, which are hydroxylated and glycosylated in a coordinated manner and then fold into triple-helical procollagen VII in the endoplasmic reticulum (ER). Mature collagen VII undergoes a multistep fibril polymerization process to form the anchoring fibrils. Mutant pro-alpha1(VII) polypeptide chains or procollagen VII molecules do not pass the ER quality control and are retained in the ER or designated for ubiquitin-proteasome degradation resulting in reduced amounts of collagen VII in the skin.


myeloperoxidase N-glycosylated 8 (human)

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


Stage II Renal Pelvis Cancer AJCC v7

Stage II includes: T2, N0, M0.  T2: Tumor invades muscularis.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage II Renal Pelvis and Ureter Cancer AJCC v7

Stage II includes: T2, N0, M0.  T2: Tumor invades the muscularis.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Duane retraction syndrome 3 with or without deafness

Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.


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

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


carcinoma in situ of ureter

A in situ carcinoma that involves the ureter.


epithelial neoplasm

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


maxillary arteriovenous malformation

Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.


thymoma

A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course.


scrotal carcinoma

A carcinoma that arises from epithelial cells of the scrotum.


ovarian endometrioid adenocarcinoma

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


ureter inverted papilloma

A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.


apocrine adenocarcinoma

A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course.


breast mucinous carcinoma

An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis.


scirrhous breast carcinoma

An infiltrating ductal breast carcinoma associated with stromal fibrosis.


renal pelvis urothelial papilloma

A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.


kidney carcinoma in situ

A carcinoma in situ involving a kidney.


adenoid cystic breast carcinoma

An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent.


stage II endometrioid carcinoma

Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus.


ovarian adenocarcinoma

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


nasal cavity carcinoma in situ

A in situ carcinoma that involves the nasal cavity.


thyroid gland fetal adenoma

A thyroid gland adenoma composed of microfollicular structures.


ureter carcinoma

A carcinoma that arises from epithelial cells of the ureter.


ovarian clear cell cancer

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


skin cystic basal cell carcinoma

A basal cell carcinoma of the skin that is characterized by cyst formation.


vulvar clear cell hidradenocarcinoma

A vulvar sweat gland carcinoma characterized by the presence of clear cells.


stage IVb bladder cancer

Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis.


vulvar squamous cell carcinoma

An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)


mucinous adenocarcinoma

An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.


corneal intraepithelial neoplasm

A squamous cell intraepithelial neoplasia that involves the cornea.


moderately-differentiated thymic neuroendocrine carcinoma


bladder signet ring cell adenocarcinoma

A signet ring cell carcinoma that involves the urinary bladder.


ureter transitional cell carcinoma

A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria.


vulvar intraepithelial neoplasia

Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type.


vulvar adenocarcinoma

An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma.


trabecular adenocarcinoma

A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern.


ovarian carcinoma

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


microcystic adenoma

A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia.


papillary squamous carcinoma

A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva.


hereditary clear cell renal cell carcinoma

A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.


basaloid carcinoma of the penis

An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present.


Wolffian duct adenocarcinoma

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


inverted transitional cell papilloma

A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern.


large cell neuroendocrine carcinoma

A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas.


pleomorphic carcinoma

A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism.


ovarian serous adenocarcinoma

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


thymic mucoepidermoid carcinoma

A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports.


endometrial undifferentiated carcinoma

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


sinonasal undifferentiated carcinoma

A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor.


breast adenoma

A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma.


prostate cancer, hereditary, 2

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


female breast lower-outer quadrant cancer


ovarian large-cell neuroendocrine carcinoma

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


vulvar basaloid squamous cell carcinoma

A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm.


endometrial adenosquamous carcinoma

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


trachea carcinoma

A carcinoma that arises from epithelial cells of the trachea.


thyroid gland atypical follicular adenoma

A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign.


oxyphilic endometrial endometrioid adenocarcinoma

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


cervical large cell neuroendocrine carcinoma

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


cavernous hemangioma

A hemangioma characterized by the presence of cavernous vascular spaces.


luminal A breast carcinoma

A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis.


papillary cystic neoplasm

A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures.


ovarian seromucinous carcinoma

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


cervical clear cell adenocarcinoma

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


testicular Brenner tumor

An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma.


endometrial endometrioid adenocarcinoma with spindled epithelial cells

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


Bartholin gland adenoma

A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells.


cortical thymoma

A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently.


rete ovarii cystadenoma

An exceptionally rare cystadenoma that arises from the rete ovarii.


peritoneal carcinoma

A peritoneum cancer that is located in the inside of the abdomen.


central breast papilloma

A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge.


undifferentiated carcinoma

A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation.


uterine ligament clear cell adenocarcinoma

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


bone carcinoma

A carcinoma that involves the bone element.


breast secretory carcinoma

A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas.


microscopic breast papilloma

A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic.


endocervical type cervical mucinous adenocarcinoma

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


synchronous bilateral breast carcinoma

Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast.


oncocytic adenoma

A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland.


lymph node adenoid cystic carcinoma

A adenoid cystic carcinoma that involves the lymph node.


non-keratinizing sinonasal squamous cell carcinoma

A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization.


cerebellar hemangioblastoma

A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26).


penis basal cell carcinoma

A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans.


hereditary breast carcinoma

Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.


periductal breast myoepitheliosis

A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts.


skin infiltrative basal cell carcinoma

A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues.


giant hemangioma

A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage.


urethra adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the urethra


hypercalcemic type ovarian small cell carcinoma

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


eyelid carcinoma

A carcinoma that arises from epithelial cells of the eyelid.


invasive carcinoma

A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma.


infiltrating renal pelvis/ureter urothelial carcinoma

Invasive urothelial carcinoma that affects the renal pelvis and ureter.


ovarian papillary tumor

A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma.


pulmonary type ovarian small cell carcinoma

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


scrotal hemangioma

A hemangioma arising from the skin of the scrotum.


ovarian serous surface papillary adenocarcinoma

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


epididymal adenocarcinoma

A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain.


sarcomatoid renal cell carcinoma

A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade.


undifferentiated ovarian carcinoma

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


bladder small cell carcinoma

A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells.


vulvar squamous neoplasm

A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma.


superficial urinary bladder carcinoma

A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade.


familial prostate carcinoma

Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.


primary prostate urothelial carcinoma

An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra.


hereditary papillary renal cell carcinoma

A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene.


lacrimal gland mucoepidermoid carcinoma

An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells.


primary intraosseous squamous cell carcinoma

A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor.


bladder colloid adenocarcinoma

A rare primary adenocarcinoma of the bladder. Histologically it is characterized by malignant cells floating in pools of mucin.


Bartholin gland transitional cell carcinoma

A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells.


endometrial transitional cell carcinoma

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


bilateral breast carcinoma

Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner.


urinary bladder small cell neuroendocrine carcinoma

A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ.


conjunctival intraepithelial neoplasm

A precancerous neoplastic intraepithelial process involving the conjunctival squamous epithelium.


ductal eccrine adenocarcinoma

An adenocarcinoma that arises from eccrine glands.


Buschke Lowenstein tumor

A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region.


subglottic hemangioma

A hemangioma arising from the subglottic area.


vulvar keratoacanthoma-like carcinoma

A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor.


mucinous ovarian cystadenoma

A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells.


vaginal squamous tumor

A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma.


seminal vesicle adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the seminal vesicle


papilloma of eyelid

A papilloma that involves the eyelid.


vulvar sebaceous carcinoma

A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests.


verrucous hemangioma

A skin hemangioma characterized by the presence of epidermal hyperplasia.


extra-adrenal sympathetic paraganglioma

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


thymus squamous cell carcinoma

A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.


retinal hemangioblastoma

A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement.


papillary cystadenoma

A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures.


mucin-rich endometrial endometrioid adenocarcinoma


salivary gland acinic cell carcinoma

A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis.


lacrimal gland adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the lacrimal gland


secondary carcinoma

A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment.


Wyburn-Mason syndrome

Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.


mucinous cystadenofibroma

A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.


familial parathyroid adenoma

An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome.


acinar cell carcinoma

A carcinoma that arises from epithelial cells of the acinar cell


scirrhous adenocarcinoma

An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction.


bone ameloblastoma

A ameloblastoma that involves the bone tissue.


A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures.


breast apocrine carcinoma in situ

A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation.


pituitary gland mixed eosinophil-basophil adenoma

An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes.


squamous cell intraepithelial neoplasia

A precancerous neoplastic intraepithelial process involving the squamous epithelium.


nasal cavity and paranasal sinus squamous cell carcinoma

A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group.


warty dyskeratoma

A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug.


infiltrating ureter transitional cell carcinoma


basal cell carcinoma

A carcinoma involving the basal cells.


benign epithelial skin neoplasm

A form of epithelial skin neoplasm without malignant characteristics.


cystic, mucinous, and serous neoplasm

Neoplasms containing cyst-like formations or producing mucin or serum.


bladder squamous cell carcinoma

A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming.


partially involuting congenital hemangioma

A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion


large cell keratinizing variant squamous cell breast carcinoma

A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization.


clear cell papillary cystadenoma

A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion.


lobular neoplasia

A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma.


uterus carcinoma in situ

A carcinoma in situ involving a uterus.


endometrial clear cell adenocarcinoma

A clear cell adenocarcinoma that involves the endometrium.


skin fibroepithelial basal cell carcinoma

A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course.


sphenoidal sinus cancer

A malignant neoplasm involving the sphenoidal sinus.


villous adenoma

An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina.


bladder papillary urothelial neoplasm

A papillary epithelial neoplasm that involves the urinary bladder urothelium.


external ear squamous cell carcinoma

A squamous cell carcinoma that arises from the skin of the external ear.


squamous cell breast carcinoma

A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells.


malignant myoepithelioma

An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.


prostate cancer, hereditary, 13

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


spindle cell hemangioma

Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis.


breast myoepithelial tumor

A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma.


breast ductal adenoma

A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor.


breast malignant eccrine spiradenoma

A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast.


Bartholin gland adenosquamous carcinoma

A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells.


large cell carcinoma

A malignant epithelial neoplasm composed of large, atypical cells.


prostate squamous cell carcinoma

An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation.


osteosarcoma arising in bone Paget disease

A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis.


renal cell adenocarcinoma

A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.


rete ovarii adenocarcinoma

An exceptionally rare adenocarcinoma that arises from the rete ovarii.


kidney oncocytoma

A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions.


ovarian clear cell tumor

A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells.


mucinous cystadenoma

A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.


thymic basaloid carcinoma

A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases.


thyroid gland macrofollicular adenoma

A thyroid gland adenoma composed of large size follicles.


non-involuting congenital hemangioma

Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).


ceruminous carcinoma

An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal.


ovarian small cell carcinoma

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


noninvasive malignant thymoma

A morphologically malignant thymoma that is entirely confined within the capsule.


basaloid squamous cell carcinoma

A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading.


bladder carcinoma in situ

Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


benign mesonephroma

A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants.


papillary carcinoma

A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.


non-invasive verrucous carcinoma of the penis


urothelial papilloma

A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium.


adenoid cystic carcinoma of the corpus uteri

A adenoid cystic carcinoma that involves the body of uterus.


bone epithelioid hemangioma

A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells.


plantar verrucous skin carcinoma

A verrucous carcinoma that involves the plantar part of pes.


benign basal cell neoplasm

A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites.


breast epithelioid hemangioma

A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast.


paranasal sinus adenoid cystic carcinoma

A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases.


breast mucinous cystadenocarcinoma

An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified.


carcinoma of Cowper glands

A carcinoma that involves the bulbo-urethral gland.


non-invasive bladder urothelial carcinoma

Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


breast large cell neuroendocrine carcinoma

A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity.


chromophil adenoma of the kidney

A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei.


clear cell squamous cell skin carcinoma

A squamous cell carcinoma of the skin with a prominent clear cell component.


sclerosing breast papilloma

A breast papilloma characterized by the presence of predominant sclerosing architectural features.


labia majora carcinoma

A carcinoma that arises from the labia majora.


frontal sinus Schneiderian papilloma

A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma.


ovarian mucinous cystadenofibroma

A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.


intramuscular hemangioma

A hemangioma arising from skeletal muscle.


retroperitoneum carcinoma

A carcinoma that arises from epithelial cells of the retroperitoneal space.


papilloma of buccal mucosa

A papilloma that involves the buccal mucosa.


cavernous hemangioma of orbit

A cavernous hemangioma arising from the orbit.


endometrial small cell carcinoma

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


serous adenocarcinoma

An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma.


skin lymphangioma

A lymphangioma arising from the skin.


isolated optic nerve hypoplasia

A congenital abnormality characterized by the underdevelopment of both optic nerves.


ovarian adenoma benign

A benign adenoma of ovary


thymic epithelial neoplasm

An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas.


skin epithelioid hemangioma

A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells.


familial keratoacanthoma

Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.


cystadenoma

A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas.


tubulovillous adenoma

An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features.


cervical keratinizing squamous cell carcinoma

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


thymic undifferentiated carcinoma

A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features.