Refractory Primary Peritoneal Adenocarcinoma

Primary peritoneal adenocarcinoma that is resistant to treatment.


Metastatic Primary Peritoneal Carcinoma

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

A carcinoma that arises from the peritoneum and has metastasized to another anatomic site.


Stage III Primary Peritoneal Cancer AJCC v7

Stage III includes: T3, N0, M0.  T3: Microscopically confirmed peritoneal tumor outside pelvis.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


Metastatic Primary Peritoneal High Grade Serous Adenocarcinoma

Primary peritoneal high-grade serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


Stage IIIC Primary Peritoneal Cancer AJCC v7

Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal tumor beyond pelvis more than 2cm in greatest dimension and/or regional lymph node metastasis. N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


Recurrent Primary Peritoneal Adenocarcinoma

The reemergence of primary peritoneal adenocarcinoma after a period of remission.


Unresectable Primary Peritoneal High Grade Serous Adenocarcinoma

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


Refractory Primary Peritoneal Serous Adenocarcinoma

Primary peritoneal serous adenocarcinoma that is resistant to treatment.


Stage II Primary Peritoneal Cancer AJCC v8

Stage II includes: T2, N0, M0. T2: Primary peritoneal cancer. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Metastatic Primary Peritoneal Serous Adenocarcinoma

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


Stage IIA Primary Peritoneal Cancer AJCC v8

Stage IIA includes: T2a, N0, M0. T2a: Primary peritoneal cancer with extension and/or implants on the uterus and/or fallopian tube(s) and/or ovaries. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Locally Advanced Unresectable Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Recurrent Primary Peritoneal Low Grade Serous Adenocarcinoma

The reemergence of primary peritoneal low grade serous adenocarcinoma after a period of remission.


Primary Peritoneal Transitional Cell Carcinoma

An extremely rare transitional cell carcinoma that arises from the peritoneum.


Platinum-Resistant Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that progresses between one and six months of completing the last platinum therapy.


Unresectable Primary Peritoneal Endometrioid Adenocarcinoma

Primary peritoneal endometrioid adenocarcinoma that is not amenable to surgical resection.


Primary Peritoneal Undifferentiated Carcinoma

An extremely rare carcinoma arising from the peritoneum. It is characterized by the presence of a diffuse malignant infiltrate that is composed of epithelial cells without evidence of glandular or squamous differentiation.


Unresectable Primary Peritoneal Serous Adenocarcinoma

Primary peritoneal serous adenocarcinoma that is not amenable to surgical resection.


Recurrent Primary Peritoneal Transitional Cell Carcinoma

The reemergence of primary peritoneal transitional cell carcinoma after a period of remission.


Stage IIIB Primary Peritoneal Cancer AJCC v7

Stage IIIB includes: T3b, N0, M0.  T3b: Macroscopic peritoneal tumor beyond pelvis 2 cm or less in greatest dimension. N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


Refractory Primary Peritoneal High Grade Serous Adenocarcinoma

Primary peritoneal high grade serous adenocarcinoma that is resistant to treatment.


Recurrent Primary Peritoneal Undifferentiated Carcinoma

The reemergence of primary peritoneal undifferentiated carcinoma after a period of remission.


Refractory Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that is resistant to treatment.


Primary Peritoneal Cancer by AJCC v8 Stage

A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 8th edition.


Primary Peritoneal Low Grade Serous Adenocarcinoma

A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by low grade histopathologic features.


Stage III Primary Peritoneal Cancer AJCC v8

Stage III includes: IIIA: T3a, N0/N1, M0; IIIB: T3b, N0/N1, M0; IIIC: T3c, N0/N1, M0. T3a: Primary peritoneal cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. T3b: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. T3c: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Primary Peritoneal Cancer by AJCC v7 Stage

A term that refers to the staging of primary peritoneal cancer according to the American Joint Committee on Cancer, 7th edition.


Unresectable Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that is not amenable to surgical resection.


Primary Peritoneal Endometrioid Adenocarcinoma

An exceedingly rare endometrioid adenocarcinoma arising from the peritoneum.


Recurrent Primary Peritoneal High Grade Serous Adenocarcinoma

The reemergence of primary peritoneal high-grade serous adenocarcinoma after a period of remission.


Metastatic Primary Peritoneal Adenocarcinoma

Primary peritoneal adenocarcinoma that has spread from its original site of growth to another anatomic site.


Primary Peritoneal Adenocarcinoma

A rare adenocarcinoma that arises from the lining of the peritoneum.


Stage IV Primary Peritoneal Cancer AJCC v7

Stage IV includes: Any T, Any N, M1.  M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 7th Ed.)


Platinum-Refractory Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that progresses during platinum therapy or within one month of completing the last platinum therapy.


Unresectable Primary Peritoneal Adenocarcinoma

Primary peritoneal adenocarcinoma that is not amenable to surgical resection.


Stage IVA Primary Peritoneal Cancer AJCC v8

Stage IVA includes: Any T, Any N, M1a. M1a: Primary peritoneal cancer with pleural effusion with positive cytology. (from AJCC 8th Ed.)


Recurrent Primary Peritoneal Endometrioid Adenocarcinoma

The reemergence of primary peritoneal endometrioid adenocarcinoma after a period of remission.


Recurrent Primary Peritoneal Carcinoma

The reemergence of primary peritoneal carcinoma after a period of remission.


Recurrent Platinum-Resistant Primary Peritoneal Carcinoma

The reemergence of platinum-resistant primary peritoneal carcinoma after a period of remission.


Refractory Primary Peritoneal Low Grade Serous Adenocarcinoma

Primary peritoneal low grade serous adenocarcinoma that is resistant to treatment.


Stage IIIA Primary Peritoneal Cancer AJCC v7

Stage IIIA includes: T3a, N0, M0.  T3a: Microscopic peritoneal tumor beyond pelvis (no macroscopic tumor). N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


Refractory Primary Peritoneal Undifferentiated Carcinoma

Primary peritoneal undifferentiated carcinoma that is resistant to treatment.


Locally Advanced Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Stage IIIC Primary Peritoneal Cancer AJCC v8

Stage IIIC includes: T3c, N0/N1, M0. T3c: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIIA Primary Peritoneal Cancer AJCC v8

Stage IIIA includes: T3a, N0/N1, M0. T3a: Primary peritoneal cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Recurrent Primary Peritoneal Serous Adenocarcinoma

The reemergence of primary peritoneal serous adenocarcinoma after a period of remission.


Stage IIB Primary Peritoneal Cancer AJCC v8

Stage IIB includes: T2b, N0, M0. T2b: Primary peritoneal cancer with tumor extension to and/or implants on other pelvic tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IVB Primary Peritoneal Cancer AJCC v8

Stage IVB includes: Any T, Any N, M1b. M1b: Primary peritoneal cancer with liver or splenic parenchymal metastases; metastases to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); transmural involvement of intestine. (from AJCC 8th Ed.)


Primary Peritoneal High Grade Serous Adenocarcinoma

A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by high grade histopathologic features.


Platinum-Sensitive Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that has a documented response to platinum-based chemotherapy.


glutamate catabolic process via 2-hydroxyglutarate

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

The anaerobic chemical reactions and pathways resulting in the breakdown of glutamate, via the intermediate 2-hydroxyglutarate, yielding energy in the form of ATP.


anaerobic glutamate catabolic process

The anaerobic chemical reactions and pathways resulting in the breakdown of glutamate, yielding energy in the form of ATP.


glutamate catabolic process via mesaconate and citramalate

The anaerobic chemical reactions and pathways resulting in the breakdown of glutamate via the intermediates mesaconate and S-citramalate, yielding energy in the form of ATP.


great vessel cancer

A malignant neoplasm arising from the great vessels.


Malignant Inferior Vena Cava Neoplasm

A malignant neoplasm involving the inferior vena cava.


pulmonary artery choriocarcinoma

A rare choriocarcinoma that arises from a pulmonary artery.


Malignant Superior Vena Cava Neoplasm

A malignant neoplasm involving the superior vena cava.


superior vena cava leiomyosarcoma

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


Benign neoplasm of great vessels

A benign neoplasm involving the great vessel.


aortic malignant tumor

A cancer that involves the aorta.


negative regulation of sperm capacitation

Any process that stops, prevents or reduces the frequency, rate or extent of sperm capacitation.


positive regulation of neuron remodeling

Any process that activates or increases the frequency, rate or extent of neuron remodeling.


regulation of neuron remodeling

Any process that modulates the frequency, rate or extent of neuron remodeling.


negative regulation of root hair elongation

Any process that stops, prevents or reduces the frequency, rate or extent of root hair elongation.


positive regulation of sperm capacitation

Any process that activates or increases the frequency, rate or extent of sperm capacitation.


negative regulation of erythrocyte enucleation

Any process that decreases the frequency, rate or extent of erythrocyte enucleation.


positive regulation of erythrocyte enucleation

Any process that increases the frequency, rate or extent of erythrocyte enucleation.


regulation of erythrocyte enucleation

Any process that modulates the frequency, rate or extent of erythrocyte enucleation.


positive regulation of bicoid mRNA localization

Any process that activates or increases the frequency, rate or extent of the process in which bicoid mRNA is transported to, or maintained in, a specific location.


negative regulation of meiotic cell cycle process involved in oocyte maturation

Any process that stops, prevents or reduces the frequency, rate or extent of meiotic cell cycle process involved in oocyte maturation.


regulation of sperm capacitation

Any process that modulates the frequency, rate or extent of sperm capacitation.


negative regulation of neuron remodeling

Any process that stops, prevents or reduces the frequency, rate or extent of neuron remodeling.


autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction


Metastatic Malignant Glomus Tumor

A malignant glomus tumor that has spread from its original site of growth to another anatomic site.


Locally Advanced Malignant Glomus Tumor

A malignant glomus tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


Unresectable Malignant Glomus Tumor

A malignant glomus tumor that is not amenable to surgical resection.


Refractory Malignant Glomus Tumor

A malignant glomus tumor that is resistant to treatment.


Decreased Pigmentation

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

Decrease in the amount of pigment.


corticospinal neuron axon guidance through spinal cord

The process in which the migration of an axon growth cone of a pyramidal cell that is part of the corticospinal tract is directed after decussation through the spinal cord in response to a combination of attractive and repulsive cues.


sweat gland of eyelid

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

Glands of Moll, also known as ciliary glands, are modified apocrine sweat glands that are found on the margin of the eyelid. They are next to the base of the eyelashes, and anterior to the Meibomian glands within the distal eyelid margin. These glands are relatively large and tubular-shaped. The glands of Moll are named after Dutch oculist Jacob Anton Moll (1832-1914). Glands of Moll empty into the adjacent lashes. Glands of Moll and Zeis secrete lipid that adds to the superficial layer of the tear film, retarding evaporation. The glands of Moll are prone to infection and blockage of its duct with sebum and cell debris. Blockage of the gland's duct causes swelling which can manifest itself as a stye.


eyelid gland

Any gland that is part of an eyelid. This includes sebaceous glands (Zeis gland, tarsal gland) and sweat glands (Moll's gland).


gland of Zeis

Glands of Zeis are unilobar sebaceous glands located on the margin of the eyelid. The glands of Zeis service the eyelash. These glands produce an oily substance that is issued through the excretory ducts of the sebaceous lobule into the middle portion of the hair follicle.


sebaceous gland of eyelid

Any of the sebaceous glands that are in the eyelid. Examples: gland of Zeis (services eyelashes), gland of Meibom (tarsal gland - unconnected to eyelids).


Ciaccio's gland

Ciaccio's glands are small tubular accessory lacrimal glands (glandulae lacrimales accessoriae) found in the lacrimal caruncle of the eyelid. They are located in the upper border of the tarsus, approximately in the middle between the extremities of the tarsal glands. Sometimes they are situated slightly above the tarsus. There are usually 2 to 5 of these glands in the upper eyelid, and their function is to produce tears which are secreted onto the surface of the conjunctiva. They are named after Italian anatomist Giuseppe Vincenzo Ciaccio (1824b1901), who described these glands in 1874. They are sometimes called Wolfring's glands after Polish ophthalmologist Emilj von Wolfring (1832-1906), who described them during the same time period as did Ciaccio. Another type of accessory lacrimal gland are Krause's glands, which are smaller, more numerous than Ciaccio's glands and are found along the superior and inferior fornices of the conjunctival sac.


FIGO Stage III Carcinoma of the Fallopian Tube

Stage III includes: (T3, N0, M0); IIIA (T3a, N0, M0); IIIB (T3b, N0, M0); IIIC (T3c, N0, M0).  T3: Tumor involves one or both fallopian tubes, with peritoneal implants outside the pelvis.  T3a: Microscopic peritoneal metastasis outside the pelvis.  T3b: Macroscopic peritoneal metastasis outside the pelvis 2cm or less in greatest dimension.  T3c: Peritoneal metastasis more than 2cm in diameter. (AJCC 6th ed.)


proline salvage

Any process which produces the amino acid proline from derivatives of it, without de novo synthesis.


intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome


Stage IA2 Lung Cancer AJCC v8

Stage IA2 includes: T1b, N0, M0. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)


long nephron

Long nephrons are associated with juxtamedullary glomeruli and extend to the inner medulla.


lipoprotein biosynthetic process via signal peptide cleavage

The chemical reactions and pathways by which signal peptide cleavage leads to formation of a water-soluble protein-lipid complex.


structural constituent of egg coat

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

The action of a molecule that contributes to the structural integrity of an egg coat. An egg coat is a specialized extracellular matrix that surrounds the ovum of animals. The egg coat provides structural support and can play an essential role in oogenesis, fertilization and early development.


UDP-3-O-[3-hydroxymyristoyl] N-acetylglucosamine deacetylase activity

Catalysis of the removal of an acetyl group from the 2-N position of glucosamine in the lipid A precursor UDP-3-O-(R-3-hydroxymyristoyl)-N-acetylglucosamine.


pupal chitin-based cuticle development

Synthesis and deposition of a chitin-based pupal cuticle. At the end of the prepupal period the insect is covered by the pupal cuticle which continues to be elaborated into the pupal period. An example of this is found in Drosophila melanogaster.


atrazine catabolic process to urea

The chemical reactions and pathways resulting in the breakdown of atrazine, a triazine ring-containing herbicide, into urea.


formamide catabolic process

The chemical reactions and pathways resulting in the breakdown of formamide, the simplest amide, HCONH2, derived from formic acid.


urea catabolic process

The chemical reactions and pathways resulting in the breakdown of urea, the water soluble compound O=C-(NH2)2.


allantoin assimilation pathway

The pathways by which allantoin is processed and converted to ureidoglycolate, and then into metabolically useful substrates. E. coli are able to utilize allantoin as a sole nitrogen source under anaerobic conditions by converting it to ureidoglycolate; this may be further metabolized to produce glyoxylate and thence 3-phosphoglycerate, or alternatively oxidized to oxolureate, which can converted into oxamate and carbamoylphosphate. This may then be further metabolized to CO2, NH4+ and ATP.


allantoin catabolic process

The chemical reactions and pathways resulting in the breakdown of allantoin, (2,5-dioxo-4-imidazolidinyl)urea.


biotin catabolic process

The chemical reactions and pathways resulting in the breakdown of biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid.


adenine deaminase activity

Catalysis of the reaction: adenine + H2O = hypoxanthine + NH3.


A cholangiocarcinoma that has developed following infection with Opisthorchis viverrini.


Stage 0 Hilar Cholangiocarcinoma AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ/high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Locally Advanced Distal Bile Duct Carcinoma

Distal bile duct carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Stage IVB Intrahepatic Cholangiocarcinoma AJCC v7

Stage IVB includes: Any T, Any N, M1.  M1: Distant metastasis. (from AJCC 7th Ed.)


Stage IA Intrahepatic Cholangiocarcinoma AJCC v8

Stage IA includes: T1a, N0, M0. T1a: Solitary tumor equal or less than 5 cm without vascular invasion.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Cholangiocarcinoma resectable

Cholangiocarcinoma that is amenable to surgical resection.


Metastatic Bile Duct Carcinoma

A carcinoma that arises from the intrahepatic or extrahepatic bile ducts and has metastasized to other anatomic sites.


Advanced Extrahepatic Bile Duct Carcinoma

Extrahepatic bile duct carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Stage IVB Hilar Cholangiocarcinoma AJCC v8

Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


Stage IB Distal Bile Duct Cancer AJCC v7

Stage IB includes: T2, N0, M0. T2: Tumor invades beyond the wall of the bile duct.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Localized Extrahepatic Bile Duct Carcinoma

A carcinoma that arises from the extrahepatic bile ducts and it has not spread to other anatomic sites.


Stage IIIB Hilar Cholangiocarcinoma AJCC v7

Stage IIIB includes: T1-3, N1, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue.  T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue.  T2b: Tumor invades adjacent hepatic parenchyma.  T3: Tumor invades unilateral branches of the portal vein or hepatic artery.  N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein).  M0: No distant metastasis. (from AJCC 7th Ed.)


Hilar Cholangiocarcinoma by AJCC v7 Stage

A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition.


Cholangiocarcinoma non-resectable

Cholangiocarcinoma that is not amenable to surgical resection.


Stage IVA Intrahepatic Cholangiocarcinoma AJCC v7

Stage IVA includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor with periductal invasion. N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Distal Bile Duct Adenocarcinoma

An adenocarcinoma that arises from the common bile duct distal to the insertion of the cystic duct.


Clear Cell Intrahepatic Cholangiocarcinoma

A morphologic variant of intrahepatic cholangiocarcinoma composed of malignant glandular epithelium, an abundant fibrous stroma, and the presence of clear cells. Clinical symptoms include abdominal pain, weight loss and malaise.


Stage I Distal Bile Duct Cancer AJCC v8

Stage I includes: T1, N0, M0. T1: Tumor invading the bile duct wall with a depth less than 5 mm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Metastatic Hilar Cholangiocarcinoma

Hilar cholangiocarcinoma that has spread from its original site of growth to another anatomic site.


Stage IIIC Hilar Cholangiocarcinoma AJCC v8

Stage IIIC includes: Any T, N1, M0. N1: One to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Unresectable Distal Bile Duct Adenocarcinoma

Distal bile duct adenocarcinoma that is not amenable to surgical resection.


Recurrent Distal Bile Duct Adenocarcinoma

The reemergence of distal bile duct adenocarcinoma after a period of remission.


Extrahepatic Bile Duct Neuroendocrine Carcinoma

An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. 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.


Stage I Hilar Cholangiocarcinoma AJCC v7

Stage I includes: T1, N0, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Locally Advanced Unresectable Cholangiocarcinoma

Cholangiocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Stage IV Hilar Cholangiocarcinoma AJCC v8

Stage IV includes: IVA: (Any T, N2, M0); IVB: (Any T, Any N, M1). N2: Four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Bile duct cancer resectable

Extrahepatic bile duct carcinoma that is amenable to surgical removal.


Locally Advanced Bile Duct Carcinoma

A bile duct carcinoma that has spread to nearby tissues or lymph nodes.


Cholangiocarcinoma metastatic

A cholangiocarcinoma that has metastasized to other anatomic sites.


Advanced Bile Duct Carcinoma

A carcinoma that arises from the intrahepatic or extrahepatic bile ducts and has spread extensively to other anatomic sites or is no longer responding to treatment.


Stage IVA Hilar Cholangiocarcinoma AJCC v7

Stage IVA includes: T4, N0-1, M0. T4: Tumor invades the main portal vein or its branches bilaterally; or the common hepatic artery; or the second-order biliary radicals bilaterally; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement.  N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein).  M0: No distant metastasis.  (from AJCC 7th Ed.)


Locally Advanced Intrahepatic Cholangiocarcinoma

Intrahepatic cholangiocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Metastatic Distal Bile Duct Adenocarcinoma

Distal bile duct adenocarcinoma that has spread from its original site of growth to another anatomic site.


intestinal type adenocarcinoma of extrahepatic bile duct

An adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of neoplastic tubular glands lined by columnar cells or neoplastic glands lined by goblet cells.


Stage III Intrahepatic Cholangiocarcinoma AJCC v7

Stage III includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum or involving the local extra hepatic structures by direct invasion. N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Bile duct cancer recurrent

The reemergence of bile duct carcinoma after a period of remission.


Stage III Intrahepatic Cholangiocarcinoma AJCC v8

Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); (Any T, N1, M0). T3: Tumor perforating the visceral peritoneum. T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage IV Distal Bile Duct Cancer AJCC v8

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


Stage IIIA Distal Bile Duct Cancer AJCC v8

Stage IIIA includes: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Refractory Bile Duct Carcinoma

Bile duct carcinoma that is resistant to treatment.


Stage IIIB Intrahepatic Cholangiocarcinoma AJCC v8

Stage IIIB includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


The reemergence of intrahepatic cholangiocarcinoma after a period of remission.


Recurrent Extrahepatic Bile Duct Carcinoma

The reemergence of an extrahepatic bile duct carcinoma after a period of remission.


Refractory Extrahepatic Bile Duct Carcinoma

Extrahepatic bile duct carcinoma that is resistant to treatment.


anaplastic carcinoma of extrahepatic bile duct

A carcinoma without evidence of differentiation arising from the extrahepatic bile ducts.


Hilar Cholangiocarcinoma by AJCC v8 Stage

A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition. Hilar well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.)


Stage 0 Intrahepatic Cholangiocarcinoma AJCC v7

Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ (intraductal tumor).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Stage II Distal Bile Duct Cancer AJCC v8

Stage II includes: IIA: (T1, N1, M0); (T2, N0, M0); IIB: (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage IVA Hilar Cholangiocarcinoma AJCC v8

Stage IVA includes: Any T, N2, M0. N2: Four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage I Hilar Cholangiocarcinoma AJCC v8

Stage I includes: T1, N0, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage II Hilar Cholangiocarcinoma AJCC v8

Stage II includes: T2a-b, N0, M0. T2a: Tumor invading beyond the wall of the bile duct to surrounding adipose tissue. T2b: Tumor invading adjacent hepatic parenchyma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage II Intrahepatic Cholangiocarcinoma AJCC v8

Stage II includes: T2, N0, M0. T2: Solitary tumor with intrahepatic vascular invasion, or multiple tumors, with or without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Bile Duct Papillary Neoplasm with an Associated Invasive Carcinoma

An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.


Intrahepatic Cholangiocarcinoma by AJCC v8 Stage

A term that refers to the staging of intrahepatic cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition.


Stage IV Intrahepatic Cholangiocarcinoma AJCC v8

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


Stage IIB Distal Bile Duct Cancer AJCC v7

Stage IIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T1: Tumor confined to the bile duct histologically.  T2: Tumor invades beyond the wall of the bile duct. T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Stage IIIA Hilar Cholangiocarcinoma AJCC v8

Stage IIIA includes: T3, N0, M0. T3: Tumor invading unilateral branches of the portal vein or hepatic artery. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Distal Bile Duct Cancer by AJCC v8 Stage

A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to bile duct adenocarcinomas, biliary intraepithelial neoplasia, high-grade neuroendocrine carcinomas, and papillary carcinomas that arise from the distal bile duct. Tumors arising in the ampulla of Vater, sarcomas, and well-differentiated neuroendocrine tumors (carcinoids) are not staged using this staging system. (from AJCC 8th Ed.)


Metastatic Extrahepatic Bile Duct Carcinoma

Extrahepatic bile duct carcinoma that has spread from its original site of growth to another anatomic site.


Extrahepatic Bile Duct Adenocarcinoma, Biliary Type

A well or moderately differentiated adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of malignant tubular glands.


Stage IB Intrahepatic Cholangiocarcinoma AJCC v8

Stage IB includes: T1b, N0, M0. T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


carcinosarcoma of extrahepatic bile duct

A carcinoma that arises from the extrahepatic bile ducts and it is characterized by the presence of a sarcomatous component.


Stage IV Distal Bile Duct Cancer AJCC v7

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis.  (from AJCC 7th Ed.)


Stage IIB Distal Bile Duct Cancer AJCC v8

Stage IIB includes: (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Hilar Cholangiocarcinoma AJCC v7

Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Stage IA Distal Bile Duct Cancer AJCC v7

Stage IA includes: T1, N0, M0. T1: Tumor confined to the bile duct histologically.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Locally Advanced Extrahepatic Bile Duct Carcinoma

Extrahepatic bile duct carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Unresectable Bile Duct Carcinoma

Bile duct carcinoma that is not amenable to surgical resection.


Stage IIIB Distal Bile Duct Cancer AJCC v8

Stage IIIB includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage IVB Hilar Cholangiocarcinoma AJCC v7

Stage IVB includes: (Any T, N2, M0); (Any T, Any N, M1).  N2: MetastasIs to periaortic, pericaval, superior mesenteric artery, and/or celiac artery lymph nodes.  M0: No distant metastasis.  M1: Distant metastasis. (from AJCC 7th Ed.)


Intrahepatic cholangiocarcinoma that has spread from its original site of growth to another anatomic site.


Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma

A carcinoma that arises from the extrahepatic bile ducts and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component.  At least 30 percent of either component should be present for the diagnosis to be made.


Unresectable Hilar Cholangiocarcinoma

Hilar cholangiocarcinoma that is not amenable to surgical resection.


Stage III Hilar Cholangiocarcinoma AJCC v8

Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); IIIC: (Any T, N1, M0). T3: Tumor invading unilateral branches of the portal vein or hepatic artery. T4: Tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. N1: One to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Intrahepatic Cholangiocarcinoma by AJCC v7 Stage

A term that refers to the staging of intrahepatic cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition.


Stage IIIA Intrahepatic Cholangiocarcinoma AJCC v8

Stage IIIA includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage IIA Distal Bile Duct Cancer AJCC v8

Stage IIA includes: (T1, N1, M0); (T2, N0, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage II Intrahepatic Cholangiocarcinoma AJCC v7

Stage II includes: T2, N0, M0.  T2: Solitary tumor with vascular invasion or multiple tumors, with or without vascular invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Refractory Distal Bile Duct Adenocarcinoma

Distal bile duct adenocarcinoma that is resistant to treatment.


Metastatic Distal Bile Duct Carcinoma

A distal bile duct carcinoma that has spread from its original site of growth to other anatomic sites.


Extrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

A papillary neoplasm that arises from the epithelium of the extrahepatic bile ducts and it is associated with an invasive carcinomatous component.  The carcinomatous component is an adenocarcinoma.


Intrahepatic cholangiocarcinoma that is amenable to surgical resection.


Stage IIA Distal Bile Duct Cancer AJCC v7

Stage IIA includes: T3, N0, M0.  T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Cholangiocarcinoma recurrent

The reemergence of cholangiocarcinoma after a period of remission.


Small Duct Intrahepatic Cholangiocarcinoma

An intrahepatic cholangiocarcinoma that arises from the small interlobular bile ducts.


Stage 0 Intrahepatic Cholangiocarcinoma AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (intraductal tumor). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Distal Bile Duct Cancer by AJCC v7 Stage

A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 7th edition.


Intrahepatic cholangiocarcinoma that is resistant to treatment.


Extrahepatic Bile Duct Adenocarcinoma, Gastric Foveolar Type

An unusual, well differentiated adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of tall malignant columnar cells with mucin-containing cytoplasm and basally located nuclei.


Intrahepatic cholangiocarcinoma that is not amenable to surgical removal.


Stage II Hilar Cholangiocarcinoma AJCC v7

Stage II includes: T2a-b, N0, M0.  T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue.  T2b: Tumor invades adjacent hepatic parenchyma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Stage III Distal Bile Duct Cancer AJCC v7

Stage III includes: T4, Any N, M0. T4: Tumor involves the celiac axis or the superior mesenteric artery.  M0: No distant metastasis. (from AJCC 7th Ed.)


Locally Advanced Cholangiocarcinoma

Cholangiocarcinoma that has spread to nearby tissues or lymph nodes.


Stage I Intrahepatic Cholangiocarcinoma AJCC v8

Stage I includes: IA (T1a, N0, M0); IB (T1b, N0, M0). T1a: Solitary tumor equal or less than 5 cm without vascular invasion.  T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Unresectable Extrahepatic Bile Duct Carcinoma

Extrahepatic bile duct carcinoma that is not amenable to surgical removal.


Stage IIIB Hilar Cholangiocarcinoma AJCC v8

Stage IIIB includes: T4, N0, M0. T4: Tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Resectable Extrahepatic Bile Duct Adenocarcinoma

Extrahepatic bile duct adenocarcinoma that is amenable to surgical resection.


Stage IIIA Hilar Cholangiocarcinoma AJCC v7

Stage IIIA includes: T3, N0, M0. T3: Tumor invades unilateral branches of the portal vein or hepatic artery.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Intrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

A papillary neoplasm that arises from the epithelium of the intrahepatic bile ducts and it is associated with an invasive carcinomatous component.  The carcinomatous component is an intrahepatic cholangiocarcinoma.


Stage I Intrahepatic Cholangiocarcinoma AJCC v7

Stage I includes: T1, N0, M0. T1: Solitary tumor without vascular invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Stage III Distal Bile Duct Cancer AJCC v8

Stage III includes: IIIA: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); IIIB: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Bile duct adenocarcinoma resectable

Bile duct adenocarcinoma that is amenable to surgical resection.


Extrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma

A mucinous cystic neoplasm that arises from the extrahepatic bile ducts and it is associated with an invasive carcinomatous component.


Stage 0 Distal Bile Duct Cancer AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ/high-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Distal Bile Duct Cancer AJCC v7

Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Refractory Cholangiocarcinoma

Cholangiocarcinoma that is resistant to treatment.


large cell neuroendocrine carcinoma of extrahepatic bile duct

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


positive regulation of metanephric cap mesenchymal cell proliferation

Any process that increases the frequency, rate, or extent of metanephric cap mesenchymal cell proliferation. Metanephric cap mesenchymal cell proliferation is the multiplication or reproduction of metanephric cap mesenchymal cells, resulting in the expansion of the cell population. A metanephric cap mesenchymal cell is a mesenchymal cell that has condensed with other mesenchymal cells surrounding the ureteric bud tip.


lumbar nerve

biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The lumbar nerves are the five spinal nerves emerging from the lumbar vertebrae. They are divided into posterior and anterior divisions.


statocyst

A balance sensory receptor present in some aquatic invertebrates[WP].


choroid spindle cell melanoma

A spindle cell melanoma that involves the optic choroid.


choroid epithelioid cell melanoma

A epithelioid cell melanoma that involves the optic choroid.


choroid necrotic melanoma

A choroid melanoma characterized by the presence of tumor cell necrosis.


choroid mixed cell melanoma

A mixed cell uveal melanoma that involves the optic choroid.


intermediate cell type choroid melanoma

Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


fumaric aciduria

Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.


vein of appendix

A vein that is part of a vermiform appendix.


Ankle Injuries

Trauma to the ankle joint.


hyomandibula-metapterygoid joint

Joint that articulates the hyomandibula bone and metapterygoid bone.


vertebral artery insufficiency

A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.


2-oxoglutarate oxygenase/decarboxylase (ethylene-forming) activity

Catalysis of the reaction: 2-oxoglutarate(2-) + O2 + 2 H+ <=> ethene + 3 carbon dioxide + H2O.


cobyrinic acid a,c-diamide synthase activity

Catalysis of the conversion of cobyrinic acid to cobyrinic acid a,c-diamide via the intermediate formation of cobyrinic acid c-monoamide.


negative regulation of penicillin catabolic process

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways leading to the breakdown of any antibiotic that contains the condensed beta-lactamthiazolidine ring system.


negative regulation of fumonisin biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of fumonisin biosynthetic process.


regulation of initiation of acetate catabolic process by acetate

Any process that modulates the activation, by acetate, of the chemical reactions and pathways resulting in the breakdown of acetate.


negative regulation of tetrapyrrole biosynthetic process from glutamate

Any process that stops, prevents or reduces the frequency, rate or extent of tetrapyrrole biosynthetic process from glutamate.


positive regulation of androst-4-ene-3,17-dione biosynthetic process

Any process that activates or increases the frequency, rate or extent of androst-4-ene-3,17-dione biosynthetic process.


negative regulation of tensidol A biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of tensidol A biosynthetic process.


regulation of polyketide biosynthetic process

Any process that modulates the frequency, rate or extent of polyketide biosynthetic process.


regulation of arginine catabolic process

Any process that modulates the frequency, rate or extent of arginine catabolic process.


regulation of proline biosynthetic process

Any process that modulates the frequency, rate or extent of proline biosynthetic process.


negative regulation of retinoic acid biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of retinoic acid biosynthetic process.


negative regulation of androst-4-ene-3,17-dione biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of androst-4-ene-3,17-dione biosynthetic process.


positive regulation of ecdysteroid biosynthetic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of ecdysteroids.


positive regulation of leucine biosynthetic process

Any process that activates or increases the frequency, rate or extent of leucine biosynthetic process.


negative regulation of xanthone-containing compound biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of xanthone-containing compound biosynthetic process.


negative regulation of gibberellin biosynthetic process

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of gibberellins.


negative regulation of palmitic acid catabolic process

Any process that stops, prevents or reduces the frequency, rate or extent of a palmitic acid catabolic process.


positive regulation of palmitic acid catabolic process

Any process that activates or increases the frequency, rate or extent of a palmitic acid catabolic process.


regulation of asperthecin biosynthetic process

Any process that modulates the frequency, rate or extent of asperthecin biosynthetic process.


negative regulation of butyryl-CoA biosynthetic process from acetyl-CoA

Any process that stops, prevents or reduces the frequency, rate or extent of butyryl-CoA biosynthetic process from acetyl-CoA.


regulation of butyryl-CoA biosynthetic process from acetyl-CoA

Any process that modulates the frequency, rate or extent of butyryl-CoA biosynthetic process from acetyl-CoA.


regulation of F-9775A biosynthetic process

Any process that modulates the frequency, rate or extent of F-9775A biosynthetic process.


regulation of ferulate catabolic process

Any process that modulates the frequency, rate or extent of ferulate catabolic process.


negative regulation of leucine biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of leucine biosynthetic process.


regulation of naphtho-gamma-pyrone biosynthetic process

Any process that modulates the frequency, rate or extent of naphtho-gamma-pyrone biosynthetic process.


regulation of helvolic acid biosynthetic process

Any process that modulates the frequency, rate or extent of helvolic acid biosynthetic process.


regulation of butyryl-CoA catabolic process to butyrate

Any process that modulates the frequency, rate or extent of butyryl-CoA catabolic process to butyrate.


positive regulation of amino acid biosynthetic process

Any process that activates or increases the frequency, rate or extent of cellular amino acid biosynthetic process.


regulation of gamma-aminobutyric acid catabolic process

Any process that modulates the frequency, rate or extent of gamma-aminobutyric acid catabolic process.


regulation of gerfelin biosynthetic process

Any process that modulates the frequency, rate or extent of gerfelin biosynthetic process.


regulation of arginine biosynthetic process via ornithine

Any process that modulates the frequency, rate or extent of arginine biosynthetic process via ornithine.


negative regulation of L-ascorbic acid biosynthetic process

Any process that stops, prevents, or reduces the frequency, rate or extent of L-ascorbic acid biosynthetic process.


regulation of palmitic acid catabolic process

Any process that modulates the frequency, rate or extent of a palmitic acid catabolic process.


regulation of asperfuranone biosynthetic process

Any process that modulates the frequency, rate or extent of asperfuranone biosynthetic process.


regulation of progesterone biosynthetic process

Any process that modulates the frequency, rate or extent of progesterone biosynthetic process.


negative regulation of isopentenyl diphosphate biosynthetic process, methylerythritol 4-phosphate pathway

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of isopentenyl diphosphate produced via the methylerythritol (MEP) pathway (mevalonate-independent).


negative regulation of abscisic acid biosynthetic process

Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of abscisic acid.


regulation of histidine biosynthetic process

Any process that modulates the frequency, rate or extent of histidine biosynthetic process.


regulation of ecdysteroid metabolic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving ecdysteroids, a group of polyhydroxylated ketosteroids which initiate post-embryonic development, including the metamorphosis of immature forms and the development of the reproductive system and the maturation of oocytes in adult females.


negative regulation of ubiquinone biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of ubiquinone biosynthetic process.


negative regulation of monodictyphenone biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of monodictyphenone biosynthetic process.


positive regulation of bile acid biosynthetic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids.


regulation of ketone catabolic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a ketone, carried out by individual cells.


positive regulation of initiation of acetate catabolic process by acetate

Any process that activates or increases the frequency, rate or extent of the activation, by acetate, of the chemical reactions and pathways resulting in the breakdown of acetate.


positive regulation of kojic acid biosynthetic process

Any process that activates or increases the frequency, rate or extent of kojic acid biosynthetic process.


regulation of jasmonic acid biosynthetic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of jasmonic acid.


regulation of tensidol A biosynthetic process

Any process that modulates the frequency, rate or extent of tensidol A biosynthetic process.


regulation of proline catabolic process to glutamate

Any process that modulates the frequency, rate or extent of proline catabolic process to glutamate.


positive regulation of penicillin catabolic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways leading to the breakdown of any antibiotic that contains the condensed beta-lactamthiazolidine ring system.


positive regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase

Any process that activates or increases the frequency, rate or extent of fatty acid beta-oxidation using acyl-CoA dehydrogenase.


negative regulation of ferulate catabolic process

Any process that stops, prevents or reduces the frequency, rate or extent of ferulate catabolic process.


negative regulation of acetate catabolic process

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of acetate.


positive regulation of methane biosynthetic process from formic acid

Any process that activates or increases the frequency, rate or extent of methane biosynthetic process from formic acid.


negative regulation of proline catabolic process to glutamate

Any process that stops, prevents or reduces the frequency, rate or extent of proline catabolic process to glutamate.


positive regulation of penicillin metabolic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving any antibiotic that contains the condensed beta-lactamthiazolidine ring system.


positive regulation of ferulate catabolic process

Any process that activates or increases the frequency, rate or extent of ferulate catabolic process.


negative regulation of gamma-aminobutyric acid catabolic process

Any process that stops, prevents or reduces the frequency, rate or extent of gamma-aminobutyric acid catabolic process.


positive regulation of butyryl-CoA biosynthetic process from acetyl-CoA

Any process that activates or increases the frequency, rate or extent of butyryl-CoA biosynthetic process from acetyl-CoA.


negative regulation of naphtho-gamma-pyrone biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of naphtho-gamma-pyrone biosynthetic process.


regulation of endocrocin biosynthetic process

Any process that modulates the frequency, rate or extent of endocrocin biosynthetic process.


regulation of ubiquinone biosynthetic process

Any process that modulates the frequency, rate or extent of ubiquinone biosynthesis. Ubiquinone biosynthesis consists of the chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme.


negative regulation of testosterone biosynthetic process

Any process that stops, prevents, or reduces the frequency, rate or extent of testosterone biosynthetic process.


negative regulation of tensidol B biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of tensidol B biosynthetic process.


regulation of isopentenyl diphosphate biosynthetic process, methylerythritol 4-phosphate pathway

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of isopentenyl diphosphate produced via the methylerythritol (MEP) pathway (mevalonate-independent).


regulation of F-9775B biosynthetic process

Any process that modulates the frequency, rate or extent of F-9775B biosynthetic process.


negative regulation of histidine biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of histidine biosynthetic process.


negative regulation of initiation of acetate catabolic process by acetate

Any process that stops or prevents the activation, by acetate, of the chemical reactions and pathways resulting in the breakdown of acetate.


negative regulation of penicillin biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of penicillin biosynthetic process.


negative regulation of ammonia assimilation cycle

Any process that stops, prevents or reduces the frequency, rate or extent of ammonia assimilation cycle.


negative regulation of glutamate metabolic process

Any process that stops, prevents, or reduces the frequency, rate or extent of glutamate metabolic process.


positive regulation of abscisic acid biosynthetic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of abscisic acid.


positive regulation of ubiquinone biosynthetic process

Any process that activates or increases the frequency, rate or extent of ubiquinone biosynthetic process.


negative regulation of methane biosynthetic process from 3-(methylthio)propionic acid

Any process that stops, prevents or reduces the frequency, rate or extent of methane biosynthetic process from 3-(methylthio)propionic acid.


regulation of glyoxylate cycle

Any process that modulates the frequency, rate or extent of glyoxylate cycle.


positive regulation of progesterone biosynthetic process

Any process that activates or increases the frequency, rate or extent of progesterone biosynthetic process.


regulation of penicillin biosynthetic process

Any process that modulates the frequency, rate or extent of penicillin biosynthetic process.


regulation of methane biosynthetic process from 3-(methylthio)propionic acid

Any process that modulates the frequency, rate or extent of methane biosynthetic process from 3-(methylthio)propionic acid.


regulation of acetate catabolic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of acetate, the anion of acetic acid.


negative regulation of amino acid biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of an amino acid biosynthetic process.


negative regulation of homoserine biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of homoserine biosynthetic process.


positive regulation of fever generation by positive regulation of prostaglandin biosynthesis

Any process that increases the rate or extent of fever generation via positive regulation of the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of prostaglandin.


regulation of homoserine biosynthetic process

Any process that modulates the frequency, rate or extent of homoserine biosynthetic process.


positive regulation of ecdysteroid metabolic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving ecdysteroids.


positive regulation of acetate catabolic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of acetate.


negative regulation of gerfelin biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of gerfelin biosynthetic process.


negative regulation of ecdysteroid metabolic process

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving ecdysteroids.


regulation of fumonisin biosynthetic process

Any process that modulates the frequency, rate or extent of fumonisin biosynthetic process.


positive regulation of proline catabolic process to glutamate

Any process that activates or increases the frequency, rate or extent of proline catabolic process to glutamate.


regulation of penicillin catabolic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways leading to the breakdown of any antibiotic that contains the condensed beta-lactamthiazolidine ring system.


regulation of gibberellin biosynthetic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of gibberellins.


negative regulation of emericellin biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of emericellin biosynthetic process.


positive regulation of glyoxylate cycle

Any process that activates or increases the frequency, rate or extent of glyoxylate cycle.


regulation of retinoic acid biosynthetic process

Any process that modulates the frequency, rate or extent of retinoic acid biosynthetic process.


negative regulation of endocrocin biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of endocrocin biosynthetic process.


regulation of emericellin biosynthetic process

Any process that modulates the frequency, rate or extent of emericellin biosynthetic process.


positive regulation of cellular glucuronidation

Any process that activates or increases the frequency, rate or extent of cellular glucuronidation.


regulation of arginine biosynthetic process

Any process that modulates the frequency, rate or extent of arginine biosynthetic process.


positive regulation of retinoic acid biosynthetic process

Any process that activates or increases the frequency, rate or extent of retinoic acid biosynthetic process.


regulation of proline metabolic process

Any process that modulates the frequency, rate or extent of proline metabolic process.


negative regulation of asperthecin biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of asperthecin biosynthetic process.


negative regulation of kojic acid biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of kojic acid biosynthetic process.


regulation of tensidol B biosynthetic process

Any process that modulates the frequency, rate or extent of tensidol B biosynthetic process.


negative regulation of neosartoricin biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of neosartoricin biosynthetic process.


positive regulation of proline metabolic process

Any process that activates or increases the frequency, rate or extent of proline metabolic process.


regulation of fever generation by regulation of prostaglandin biosynthesis

Any process that modulates the rate or extent of fever generation via regulation of the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of prostaglandin.


negative regulation of arginine catabolic process

Any process that stops, prevents or reduces the frequency, rate or extent of arginine catabolic process.


positive regulation of gibberellin biosynthetic process

Any process that activates, maintains or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of gibberellins.


positive regulation of glutamate metabolic process

Any process that activates or increases the frequency, rate or extent of glutamate metabolic process.


positive regulation of ammonia assimilation cycle

Any process that activates or increases the frequency, rate or extent of ammonia assimilation cycle.


positive regulation of homoserine biosynthetic process

Any process that activates or increases the frequency, rate or extent of homoserine biosynthetic process.


positive regulation of arginine biosynthetic process

Any process that activates or increases the frequency, rate or extent of arginine biosynthetic process.


regulation of methane biosynthetic process from formic acid

Any process that modulates the frequency, rate or extent of methane biosynthetic process from formic acid.


initiation of acetate catabolic process

The activation of the chemical reactions and pathways resulting in the breakdown of acetate.


negative regulation of helvolic acid biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of helvolic acid biosynthetic process.


negative regulation of butyryl-CoA catabolic process to butyrate

Any process that stops, prevents or reduces the frequency, rate or extent of butyryl-CoA catabolic process to butyrate.


regulation of abscisic acid biosynthetic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of abscisic acid.


negative regulation of polyketide biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of polyketide biosynthetic process.


regulation of androst-4-ene-3,17-dione biosynthetic process

Any process that modulates the frequency, rate or extent of androst-4-ene-3,17-dione biosynthetic process.


regulation of ammonia assimilation cycle

Any process that modulates the frequency, rate or extent of ammonia assimilation cycle.


regulation of tetrapyrrole biosynthetic process from glutamate

Any process that modulates the frequency, rate or extent of tetrapyrrole biosynthetic process from glutamate.


regulation of ecdysteroid biosynthetic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of ecdysteroids.


positive regulation of gamma-aminobutyric acid catabolic process

Any process that activates or increases the frequency, rate or extent of gamma-aminobutyric acid catabolic process.


negative regulation of progesterone biosynthetic process

Any process that stops, prevents, or reduces the frequency, rate or extent of progesterone biosynthetic process.


positive regulation of naphtho-gamma-pyrone biosynthetic process

Any process that activates or increases the frequency, rate or extent of naphtho-gamma-pyrone biosynthetic process.


negative regulation of glyoxylate cycle

Any process that stops, prevents or reduces the frequency, rate or extent of glyoxylate cycle.


negative regulation of methane biosynthetic process from formic acid

Any process that stops, prevents or reduces the frequency, rate or extent of methane biosynthetic process from formic acid.


negative regulation of penicillin metabolic process

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving any antibiotic that contains the condensed beta-lactamthiazolidine ring system.


negative regulation of proline biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of proline biosynthetic process.


regulation of xanthone-containing compound biosynthetic process

Any process that modulates the frequency, rate or extent of xanthone-containing compound biosynthetic process.


initiation of acetate catabolic process by acetate

The activation, by acetate, of the chemical reactions and pathways resulting in the breakdown of acetate.


positive regulation of fatty acid beta-oxidation by serotonin receptor signaling pathway

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A serotonin receptor signaling pathway that results in positive regulation of fatty acid beta-oxidation.


negative regulation of F-9775A biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of F-9775A biosynthetic process.


negative regulation of F-9775B biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of F-9775B biosynthetic process.


regulation of kojic acid biosynthetic process

Any process that modulates the frequency, rate or extent of kojic acid biosynthetic process.


regulation of o-orsellinic acid biosynthetic process

Any process that modulates the frequency, rate or extent of o-orsellinic acid biosynthetic process.


regulation of penicillin metabolic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving any antibiotic that contains the condensed beta-lactamthiazolidine ring system.


negative regulation of proline metabolic process

Any process that stops, prevents, or reduces the frequency, rate or extent of proline metabolic process.


negative regulation of ecdysteroid biosynthetic process

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of ecdysteroids.


regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase

Any process that modulates the frequency, rate or extent of fatty acid beta-oxidation using acyl-CoA dehydrogenase.


positive regulation of methane biosynthetic process from 3-(methylthio)propionic acid

Any process that activates or increases the frequency, rate or extent of methane biosynthetic process from 3-(methylthio)propionic acid.


regulation of jasmonic acid metabolic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving jasmonic acid.


regulation of leucine biosynthetic process

Any process that modulates the frequency, rate or extent of leucine biosynthetic process.


negative regulation of progesterone biosynthesis involved in luteolysis

Any process that decreases the rate, frequency or extent of the biosynthesis of progesterone biosynthesis that contributes to luteolysis.


positive regulation of xanthone-containing compound biosynthetic process

Any process that activates or increases the frequency, rate or extent of xanthone-containing compound biosynthetic process.


regulation of L-ascorbic acid biosynthetic process

Any process that modulates the frequency, rate or extent of L-ascorbic acid biosynthetic process.


regulation of neosartoricin biosynthetic process

Any process that modulates the frequency, rate or extent of neosartoricin biosynthetic process.


negative regulation of o-orsellinic acid biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of o-orsellinic acid biosynthetic process.


regulation of monodictyphenone biosynthetic process

Any process that modulates the frequency, rate or extent of monodictyphenone biosynthetic process.


positive regulation of tetrapyrrole biosynthetic process from glutamate

Any process that activates or increases the frequency, rate or extent of tetrapyrrole biosynthetic process from glutamate.


positive regulation of butyryl-CoA catabolic process to butyrate

Any process that activates or increases the frequency, rate or extent of butyryl-CoA catabolic process to butyrate.


positive regulation of histidine biosynthetic process

Any process that activates or increases the frequency, rate or extent of histidine biosynthetic process.


Anal Intraepithelial Neoplasia 2

Anal canal or perianal skin intraepithelial neoplasia with moderate dysplasia.


temporal lobe cancer

A cancer that involves the temporal lobe.


neoplasm of temporal lobe

A neoplasm (disease) that involves the temporal lobe.


Metastatic malignant neoplasm to vertebral column

The spread of a malignant neoplasm to the spine.  This may be from a primary spinal malignant neoplasm, or from a malignant neoplasm at a distant site.


Prostate Carcinoma Metastatic in the Bone

A carcinoma that arises from the prostate gland and has spread to the bone.


Breast Carcinoma Metastatic in the Bone

A carcinoma that arises from the breast and has metastasized to the bone.


Breast Carcinoma Metastatic in the Spine

A carcinoma that arises from the breast and has spread to the spine.


Plasma Cell Myeloma-Induced Bone Disease

Bone infiltration by malignant plasma cells in patients with history of plasma cell myeloma. Bone involvement occurs in approximately eighty percent of newly diagnosed symptomatic plasma cell myeloma patients. The axial skeleton, particularly the spine, and the proximal long bones are the most commonly affected bone sites. It results in osteolytic bone lesions, widespread osteopenia, and compression fractures.


Lung Carcinoma Metastatic in the Bone

A carcinoma that arises from the lung and has metastasized to the bone.


cell migration involved in coronary vasculogenesis

The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form the blood vessels of the heart.


Neck Lymph Node Boundary Sublevel VB

The following anatomical structures define the neck lymph node boundary for sublevel VB: Superior: horizontal plane defined by the lower border of the cricoid cartilage; inferior: clavicle; anterior (medial): posterior border of the sternocleidomastoid muscle; posterior (lateral): anterior border of the trapezius muscle. (AJCC 8th ed.)


syndromic disease

A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.


Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.


Pancoast syndrome

A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent.


piriformis syndrome

A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.


Ectopic Chorionic Gonadotropin Secretion Syndrome

A syndrome characterized by abnormal secretion of chorionic gonadotropin in conjunction with neoplastic growth occurring anywhere in the body.


Combined Immunodeficiencies Associated with Syndromic Features

A group of genetic immunodeficiency syndromes with unique clinical features and well-characterized underlying immune defects, comprised of: CID with congenital thrombocytopenia; CID due to DNA repair defects other than forms of SCID in category I; CID due to thymic defects with additional congenital anomalies; CID with immunoosseous dysplasias; Hyper-IgE syndromes (HIES); CID due to defects of vitamin B12 and folate metabolism; Anhidrotic ectodermal dysplasia with immunodeficiency; CID due to calcium channel defects; and various other CID with unique clinical phenotypes.


Joubert syndrome 3

Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.


myelodysplastic syndrome with excess blasts-1

A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)


Microscopic enteritis

Diagnosis of celiac disease at a later age despite an asymptomatic clinical course. Serologic evidence with minimal histological changes in the intestinal mucosa are noted. The presence of human tissue transglutaminase, endomysial and gliadin antibodies without substantial villous changes follow many years of a seemingly gluten-tolerant diet. Despite an unremarkable clinical course, continued unrestricted gluten intake may predispose to the same sequelae as overt disease.


B cell deficiency

A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.


childhood myelodysplastic syndrome

An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.


Insulin resistance syndrome

A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome.


synpolydactyly

A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).


Congenital Bone Marrow Failure Syndromes

A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome.


familial atypical multiple mole melanoma syndrome

An autosomal dominant hereditary neoplastic syndrome characterized by the presence of multiple melanocytic nevi, some of which are atypical, and a family history of melanoma. Patients are at an increased risk of developing melanoma and pancreatic cancer.


opsoclonus-myoclonus syndrome

Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.


autosomal dominant familial periodic fever

Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.


Bernard-Soulier syndrome

Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.


stiff-person syndrome

Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.


cytokine release syndrome

A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening.


BENTA disease

BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.


familial cold autoinflammatory syndrome

Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.


Familial Atypical Hemolytic Uremic Syndrome

Hemolytic uremic syndrome associated with an inherited defect, but which is not associated with shiga toxin-producing enterobacteria.


diencephalic syndrome

Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.


isotretinoin syndrome

Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.


purine nucleoside phosphorylase deficiency

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.


Interferon Regulatory Factor 8 Deficiency

A genetic condition caused by mutation(s) in the IRF8 gene encoding interferon regulatory factor 8. Autosomal dominant (Immunodeficiency 32A) and autosomal recessive (Immunodeficiency 32B) genetic alterations result in different phenotypes, both of which have impairment of function in dendritic cells.


Dubowitz syndrome

A rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.


immunoglobulin heavy chain deficiency

A disorder that affects the production of complete immunoglobulins. Deletions in the heavy chain genes on chromosome 14 disrupt the synthesis and secretion of properly functioning antibodies resulting in monoclonal populations of truncated heavy chains without covalently bonded light chains. Such deletions have been implicated as playing a significant role in several diseases including leukemias, lymphomas and myelomas.


Behr syndrome

A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.


pseudopseudohypoparathyroidism

A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).


Diamond-Blackfan anemia 5

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.


nevoid basal cell carcinoma syndrome

A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.


empty sella syndrome

Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.


Postnatal Drug Withdrawal

Withdrawal signs and symptoms that present during the postnatal period and are caused by drug use by the pregnant mother.


STXBP2 Deficiency

A condition of decreased or absent presence of syntaxin-binding protein 2. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis type 5.


SAPHO syndrome

SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.


Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.


Fanconi anemia complementation group D1

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.


Gitelman syndrome

Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.


autoinflammatory syndrome

A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.


Weaver syndrome

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.


oculocerebrorenal syndrome

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.


mucopolysaccharidosis type 4A

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.


A myelodysplastic syndrome caused by chemotherapy and/or radiotherapy.


mosaic variegated aneuploidy syndrome

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.


Laurence-Moon syndrome

A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.


leukocyte adhesion deficiency 1

Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.


split hand-foot malformation 3

The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.


multicentric carpo-tarsal osteolysis with or without nephropathy

Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.


Sturge-Weber syndrome

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.


Felty syndrome

Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.


X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.


PFAPA syndrome

An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.


pseudohypoparathyroidism type 1A

A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).


chromosome 18p deletion syndrome

Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.


hereditary benign intraepithelial dyskeratosis

A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.


Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas).


Blau syndrome

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.


ALG12-congenital disorder of glycosylation

A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).


Lambert-Eaton myasthenic syndrome

Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).


chromosome 18q deletion syndrome

A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.


Fanconi anemia complementation group B

Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.


Endogenous Cushing Syndrome

Cushing syndrome that is caused by excessive production of cortisol by the adrenal gland.


euthyroid sick syndrome

Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.


thalidomide embryopathy

A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.


mucopolysaccharidosis type 6

Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.


autoimmune lymphoproliferative syndrome type 1

A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but variable penetrance. It is the most common subtype of autoimmune lymphoproliferative syndrome (ALPS). It is usually caused by a germline mutation in the Fas gene that leads to defective Fas-induced apoptosis but in a minority of cases, it also may be attributed to a somatic Fas mutation. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.