Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy by AJCC v8 Stage

A term that refers to the staging of unknown primary tumor (except for EBV-related and HPV-related tumors) and metastatic cervical adenopathy according to the American Joint Committee on Cancer, 8th edition.


Stage IVA Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

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

Stage IVA includes: T0, N2, M0. T0: No evidence of primary tumor. N2: Metastasis in a single ipsilateral or contralateral cervical lymph node 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral cervical lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th Ed.)


Stage IVC Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

Stage IVC includes: T0, Any N, M1. T0: No evidence of primary tumor. M1: Distant metastasis. (AJCC 8th Ed.)


Stage III Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

Stage III includes: T0, N1, M0. T0: No evidence of primary tumor. N1: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (extranodal extension)(-). M0: No distant metastasis. (AJCC 8th Ed.)


Recurrent Metastatic Merkel Cell Carcinoma

The reemergence of a metastatic Merkel cell carcinoma after a period of remission.


Recurrent Metastatic Malignant Neoplasm

The reemergence of a metastatic malignant neoplasm after a period of remission.


Recurrent Metastatic Melanoma

The reemergence of metastatic melanoma after a period of remission.


Recurrent Carcinoma of Unknown Primary

The reemergence of carcinoma from an unknown primary after a period of remission.


Recurrent Metastatic Digestive System Carcinoma

The reemergence of a metastatic digestive system carcinoma after a period of remission.


Recurrent Pseudomyxoma Peritonei

The reemergence of pseudomyxoma peritonei after a period of remission.


Recurrent Metastatic Malignant Neoplasm in the Leptomeninges

The reemergence of a metastatic malignant neoplasm in the leptomeninges after a period of remission.


Recurrent Metastatic Gastric Carcinoma

The reemergence of metastatic gastric carcinoma after a period of remission.


Recurrent Metastatic Skin Squamous Cell Carcinoma

The reemergence of a metastatic skin squamous cell carcinoma after a period of remission.


areolar gland

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

A sebaceous glands in the areola surrounding the nipple.


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

Catalysis of the movement of lysophosphatidylcholine from the exoplasmic to the cytosolic leaftlet of a membrane, using energy from the hydrolysis of ATP.


interleukin-3 production

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

The appearance of interleukin-3 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.


micronucleus organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the micronucleus.


modulation by symbiont of host B-cell mediated immune response

Any process in which a symbiont modulates the frequency, rate or extent of the B-cell mediated immune response of the host organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.


suppression by symbiont of host B-cell mediated immune response

Any process in which a symbiont stops, prevents, or reduces the frequency, rate or extent of the B-cell mediated immune response of the host organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.


Mitochondrially Inherited Nonsyndromic Sensorineural Deafness

A maternally inherited form of nonsyndromic sensorineural deafness that is caused by a mutation in any of several mitochondrial genes.


Deafness due to Connexin 26 Gene Anomaly

Congenital deafness caused by mutations in the gene GJB2 (deafness gene).


Complete neonatal hearing loss

Complete loss of the ability to detect or understand sounds present in an infant within its first month after birth.


Neonatal hearing loss

Partial or complete loss of the ability to detect or understand sounds present in an infant within its first month after birth.


autosomal recessive nonsyndromic hearing loss 1A

An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.


central hearing loss

Hearing loss resulting from disorders of the central nervous system auditory pathways.


autosomal recessive nonsyndromic hearing loss 49

An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.


autosomal dominant nonsyndromic hearing loss 36

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.


Hearing Loss, Functional

Hearing loss in the absence of auditory system pathology.


autosomal recessive nonsyndromic hearing loss 36

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.


autosomal recessive nonsyndromic hearing loss 28

An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.


Partial neonatal hearing loss

Partial loss of the ability to detect or understand sounds present in an infant within its first month after birth.


autosomal recessive nonsyndromic hearing loss 39

An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.


noise induced hearing loss

A condition in which a person loses the ability to hear due to exposure to high intensity sound.


autosomal dominant nonsyndromic hearing loss 41

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.


hearing loss, X-linked 4

Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.


X-linked hereditary sensory and autonomic neuropathy with hearing loss

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.


Sensory hearing loss

Hearing loss caused by damage to the cochlea in the inner ear.


severe intellectual disability-progressive spastic diplegia syndrome

Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.


Germinative Follicular Epithelium

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hand dermatosis

Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual.


pyromania

A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.


arthus reaction

A localized vasculitis resulting from deposition of antibody-antigen complexes.


L(+)-tartrate dehydratase activity

Catalysis of the reaction: L-tartrate = H2O + oxaloacetate.


Testicular Mixed Choriocarcinoma and Teratoma

A malignant mixed germ cell tumor arising from the testis.  It is characterized by the presence of a teratomatous component and malignant syncytiotrophoblastic cells.


eyelid degenerative disorder

A neurodegenerative disease that involves the eyelid.


positive regulation of protein localization to adherens junction

Any process that activates or increases the frequency, rate or extent of protein localization to adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments.


C-19 gibberellin 2-beta-dioxygenase activity

Catalysis of the reaction: a C-19 gibberellin + 2-oxoglutarate + O2 = a C-19 2-beta-hydroxygibberellin + succinate + CO2. C-19 gibberellin refers to a gibberellin with nineteen carbons.


gibberellin 2-beta-dioxygenase activity

Catalysis of the reaction: a gibberellin + 2-oxoglutarate + O2 = a 2-beta-hydroxygibberellin + succinate + CO2.


C-20 gibberellin 2-beta-dioxygenase activity

Catalysis of the reaction: a C-20 gibberellin + 2-oxoglutarate + O2 = a C-20 2-beta-hydroxygibberellin + succinate + CO2. C-20 gibberellin refers to a gibberellin with twenty carbons.


glutamate catabolic process via L-citramalate

The chemical reactions and pathways resulting in the breakdown of glutamate, via the intermediate L-citramalate.


hyperphosphatasia with intellectual disability syndrome 2

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.


External Prosthetic Device Pain

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

Pain that is associated with an external artificial replacement device.


benign neoplasm of endometrium

A benign neoplasm that involves the endometrium.


severe pre-eclampsia

Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.


corniculate cartilage

The corniculate cartilages (cartilages of Santorini) are two small conical nodules consisting of yellow elastic cartilage, which articulate with the summits of the arytenoid cartilages and serve to prolong them posteriorly and medially. They are situated in the posterior parts of the aryepiglottic folds of mucous membrane, and are sometimes fused with the arytenoid cartilages. [WP,unvetted].


Malignant nasopharyngeal neoplasm recurrent

The reemergence of a nasopharyngeal malignant neoplasm after a period of remission.


Lymphoma of kidney

A lymphoma that arises from the kidney. There is no evidence of a systemic lymphoproliferative disorder.


detection of jasmonic acid stimulus

The series of events in which a jasmonic acid stimulus is received by a cell and converted into a molecular signal. Series of events required for a jasmonic acid stimulus to be detected and converted to a signal molecule.


negative regulation of RNA import into nucleus

Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of RNA from the cytoplasm into the nucleus.


Peritoneal Histiocytic Nodule

A nodule in the peritoneum composed of benign histiocytes.


cholane derivative

Any steroid (or derivative) based on a cholane skeleton.


A steroid compound with a structure based on a 24-carbon (cholane) skeleton.


Douglas' pouch

The rectouterine pouch (or rectouterine excavation, rectovaginal, Ehrhardt-Cole Recess or Pouch of Douglas) is the extension of the peritoneal cavity between the rectum and back wall of the uterus in the female human body. The rectouterine pouch is used in the treatment of end-stage renal failure in patients who are treated by peritoneal dialysis. The tip of the dialysis catheter is placed into the deepest point of the pouch. In women it is the deepest point of the peritoneal cavity, posterior to (behind) the uterus and anterior to (in front of) rectum. (The pouch on the other side of the uterus is the vesicouterine excavation. ) It is near the posterior fornix of the vagina. In men, the region corresponding to the rectouterine pouch is the rectovesical excavation, which lies between the urinary bladder and rectum. (There is no equivalent to the vesicouterine excavation.).


uterovesical pouch

The peritoneum over the rectum and the bladder is continued over the intestinal surface and fundus of the uterus on to its vesical surface, which it covers as far as the junction of the body and cervix uteri, and then to the bladder, forming here a second, but shallower, pouch, the vesicouterine excavation (or uterovesical pouch). The vesicouterine excavation is close to the anterior fornix of the vagina.


follicular dendritic cell sarcoma of mediastinum

A rare follicular dendritic cell sarcoma that affects the structures of the mediastinum.


streptococcus pneumoniae discitis

Discitis caused by infection with Streptococcus pneumoniae.


atrial septal defect 9

Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.


Ewing sarcoma of bone

A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor.


depressor labii inferioris

A muscle of facial expression, innervated by the facial nerve, attached to the skin of the lower lip, orbicularis oris muscle, and mandible, and superficial and lateral to the mentalis muscle. See Diogo et al., 2009; Burrows et al., 2011).


negative regulation of store-operated calcium channel activity

Any process that stops, prevents or reduces the frequency, rate or extent of store-operated calcium channel activity.


negative regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity

Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the inositol 1,4,5-trisphosphate-sensitive calcium-release channel.


negative regulation of high voltage-gated calcium channel activity

Any process that stops, prevents or reduces the frequency, rate or extent of high voltage-gated calcium channel activity.


regulation of light-activated voltage-gated calcium channel activity

Any process that modulates the frequency, rate or extent of light-activated voltage-gated calcium channel activity.


The chemical reactions and pathways resulting in the breakdown of 3-methylbut-2-enoyl-CoA(4-).


acute hypotension

Acute form of hypotension (disease).


Pancreatic Mucinous-Cystic Neoplasm, High Grade

A non-invasive mucinous cystic neoplasm that arises from the pancreas and is characterized by the presence of severe dysplasia.  The neoplastic columnar mucin-producing epithelial cells form papillae with irregular branching and budding.  There is nuclear stratification, prominent nucleoli, and cellular pleomorphism.  Mitotic activity is present and the mitoses may be atypical.


peptidyl-arginine dihydroxylation to peptidyl-3,4-dihydroxy-L-arginine

The dihydroxylation of peptidyl-arginine to form peptidyl-3,4-dihydroxy-L-arginine.


peptidyl-arginine hydroxylation

The hydroxylation of peptidyl-arginine to form peptidyl-hydroxyarginine.


peptidyl-arginine hydroxylation to peptidyl-4-hydroxy-L-arginine

The hydroxylation of peptidyl-arginine to form peptidyl-4-hydroxy-L-arginine.


oxylipin biosynthetic process

The chemical reactions and pathways resulting in the formation of any oxylipin, any of a group of biologically active compounds formed by oxidative metabolism of polyunsaturated fatty acids.


positive regulation of filamentous growth of a population of unicellular organisms in response to chemical stimulus

Any process that activates or increases the frequency, rate or extent of filamentous growth of a population of unicellular organisms in response to chemical stimulus.


Parenteral Nutrition - Associated Cholestasis

Cholestasis that results from prolonged total parenteral nutrition. It is caused by diminished bile flow from the liver into the duodenum. It may result in cirrhosis and liver failure. Preterm infants are most susceptible to liver damage.


Recurrent Intrahepatic Cholestasis

Reappearance of cholestasis caused by obstruction within the liver.


Genital rhabdomyoma

A rare benign skeletal muscle neoplasm arising from the female genital tract. It is characterized by the presence of small nucleated rhabdomyoblasts within a fibrous and myxoid stroma.


Benign Skeletal Muscle Neoplasm

A benign mesenchymal neoplasm arising from skeletal muscle tissue.


Extracardiac Rhabdomyoma

A benign mesenchymal neoplasm that shows mature skeletal muscle differentiation.


Central Nervous System Rhabdomyoma

A benign mesenchymal neoplasm arising from the central nervous system.  It consists of mature skeletal muscle tissue.


Intermediate Rhabdomyoma

A morphologic variant of fetal rhabdomyoma characterized by the presence of spindle cell myoblasts and strap-like skeletal muscle cells.


Vulvar Rhabdomyoma

A rare benign polypoid skeletal muscle neoplasm arising from the vulva. It is characterized by the presence of round striated muscle cells and strap-like skeletal muscle cells, and vascular space formations within a fibrous and myxoid stroma.


Fetal rhabdomyoma

A rare benign mesenchymal neoplasm arising from skeletal muscle. It is characterized by the presence of immature spindle and polygonal cells within a scant myxoid stroma. It usually develops in the head and neck region of young children.


Paratesticular Rhabdomyoma

A rhabdomyoma that arises from the paratesticular region.


Vaginal Rhabdomyoma

A rare benign polypoid skeletal muscle neoplasm arising from the vagina.  It is characterized by the presence of round striated muscle cells and strap-like skeletal muscle cells, and vascular space formations within a fibrous and myxoid stroma.


Adult Extracardiac Rhabdomyoma

A benign mesenchymal neoplasm arising from skeletal muscle and occurring in adults.


Classic Rhabdomyoma

A morphologic variant of fetal rhabdomyoma characterized by the presence of a prominent myxoid stroma and primitive skeletal spindle cells.


Mediastinal Rhabdomyoma

A rare benign skeletal muscle neoplasm arising from the mediastinum.


atrial septal defect 7

Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.


mesenteric lymphadenitis

Inflammation of the mesenteric lymph nodes.


amyloidosis, primary localized cutaneous, 1

Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.


familial primary localized cutaneous amyloidosis


amyloidosis, primary localized cutaneous, 3


amyloidosis, primary localized cutaneous, 2


trihydroxyflavanone

A hydroxyflavanone carrying three hydroxy substituents.


negative regulation of mediator complex assembly

Any process that stops, prevents or reduces the frequency, rate or extent of mediator complex assembly.


Stage IB Fallopian Tube Cancer AJCC v6 and v7

Stage IB includes: T1b, N0, M0.  T1b: Tumor limited to both tubes, without penetrating the serosal surface; no ascites.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


negative regulation of cardiac muscle cell myoblast differentiation

Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell myoblast differentiation.


Catalysis of the reaction: D-galactosyl-1,4-N-acetyl-beta-D-glucosaminyl-1,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide + UDP-N-acetyl-D-glucosamine = N-acetyl-D-glucosaminyl-1,6-beta-D-galactosyl-1,4-N-acetyl-beta-D-glucosaminyl-1,3-beta-D-galactosyl-1,4-beta-D-glucosyceramide + UDP.


thyroid follicle

Discrete, cystlike units of the thyroid gland that are lined with cuboidal epithelium and are filled with a colloid substance, about 30 to each lobule[BTO].


fenestra endochoanalis

Opening on the ventral aspect of the nasal capsule. It contains the apertura nasalis interna.


epaxial region somite 17

The epaxial region of somite 17 derived body wall muscle. The epaxial region is dorsal to the horizontal myoseptum. Kimmel et al, 1995.


Expanding aneurysm

Expansion of aneurysm.


positive regulation of branching morphogenesis of a nerve

Any process that activates or increases the frequency, rate or extent of branching morphogenesis of a nerve.


negative regulation of vascular wound healing

Any process that decreases the rate, frequency, or extent of blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to damaged vasculature.


negative regulation of cell adhesion involved in sprouting angiogenesis

Any process that stops, prevents or reduces the frequency, rate or extent of cell adhesion involved in sprouting angiogenesis.


negative regulation of vessel branching

Any process that stops, prevents or reduces the frequency, rate or extent of blood vessel branching.


follicular atrophoderma-basal cell carcinoma


feminization of hermaphroditic germ-line

The determination of female sex and sexual phenotype in the germ-line of the hermaphrodite.


masculinization of hermaphroditic germ-line

The determination of male sex and sexual phenotype in the germ-line of the hermaphrodite. An example of this is found in Caenorhabditis elegans.


hermaphrodite germ-line sex determination

The determination of sex and sexual phenotype in the germ line of a hermaphrodite.


female germ-line sex determination

The determination of sex and sexual phenotype in a female organism's germ line.


Metastatic Malignant Abdominal Neoplasm

A malignant neoplasm that arises from the abdomen and has spread from its original site of growth to another anatomic site.


Advanced Malignant Abdominal Neoplasm

A malignant neoplasm that arises from the abdomen and has spread extensively to other anatomic sites or is no longer responding to treatment.


macula of saccule of membranous labyrinth

The oval neuroepithelial sensory receptor in the anterior wall of the saccule; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies.


anterior macula

Macula that is located in the developing anterior inner ear, and gives rise to the macula utricle. (See Anatomical Atlas entry for sensory patches of the ear by T. Whitfield.).


macula of utricle of membranous labyrinth

The neuroepithelial sensory receptor in the inferolateral wall of the utricle; hair cells of the neuroepithelium support the statoconial membrane and have terminal arborizations of vestibular nerve fibers around their bodies; normally sensitive to linear acceleration in the longitudinal axis of the body and to gravitational influences.


macula neglecta

Macula positioned on the floor of the utricle adjacent to the utriculosaccular foramen at the base of the common crus.


posterior macula

Macula that is located in the developing posterior inner ear, and gives rise to the macula neglecta and the macula saccule. (See Anatomical Atlas entry for sensory patches of the ear by T. Whitfield.).


Catalysis of the reaction: (Kdo)2-lipid A + 2 4-amino-4-deoxy-alpha-L-arabinopyranosyl di-trans,poly-cis-undecaprenyl phosphate = (beta-L-Ara4N)2-(KDO)2-lipid A + 2 ditrans,polycis-undecaprenyl phosphate.


sick sinus syndrome 2, autosomal dominant

Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.


20q11.2 microduplication syndrome

20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.


TNFSF11 binding

Binding to tumor necrosis factor ligand superfamily member 11 (TNFSF11), a member of the tumor necrosis factor (TNF) cytokine family.


chlorophyllase activity

Catalysis of the reaction: chlorophyll + H2O = phytol + chlorophyllide.


brachydactyly type E2

Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.


immunodeficiency 32B

A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.


negative regulation of toll-like receptor 1 signaling pathway

Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor 1 signaling pathway.


organosulfonic ester

An ester resulting from the formal condensation of the hydroxy group of an alcohol, phenol, heteroarenol, or enol with an organosulfonic acid.


methanesulfonate ester

An organosulfonic ester resulting from the formal condensation of methanesulfonic acid with the hydroxy group of an alcohol, phenol, heteroarenol, or enol.


isobutanol metabolic process

The chemical reactions and pathways involving isobutanol.


valine catabolic process to isobutanol

The chemical reactions and pathways resulting in the breakdown of valine to isobutanol.


isobutanol biosynthetic process

The chemical reactions and pathways resulting in the formation of isobutanol.


glycine catabolic process to isobutanol

The chemical reactions and pathways resulting in the breakdown of glycine to isobutanol.


congenital narrowing of cervical spinal canal

Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.


Vas deferens perforation

A rupture in the wall of the vas deferens.


Retinoblastoma, diffuse

A retinoblastoma characterized by the absence of a distinct retinal mass and the presence of malignant cells diffusely infiltrating the retina. It is often confused with uveitis and endophthalmitis, resulting in delayed diagnosis of the malignancy.


microtubule nucleation by spindle pole body

The 'de novo' formation of a microtubule, mediated by the spindle pole body.


The 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates from the centrosome.


The 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates from chromatin.


mitotic spindle-templated microtubule nucleation

The 'de novo' formation of a microtubule, in which tubulin heterodimers form metastable oligomeric aggregates from within the mitotic spindle.


double-stranded DNA helicase activity

Catalysis of the reaction: ATP + H2O = ADP + phosphate, in the presence of double-stranded DNA; drives the unwinding of a DNA helix.


adaptive immune memory response involving T cells and B cells

An immune response mediated by reactivated memory T cells and B cells and directed against a previously encountered antigen, being quicker and quantitatively better compared with the primary response.


adaptive immune memory response

An immune response directed against a previously encountered antigen, being quicker and quantitatively better compared with the primary response.


inositol 2-dehydrogenase activity

Catalysis of the reaction: myo-inositol + NAD+ = 2,4,6/3,5-pentahydroxycyclohexanone + H+ + NADH.


Catalysis of the reaction: 3-methylbutanol + NAD+ = 3-methylbutanal + NADH + H+. 3-methylbutanal is also known as isovaleraldehyde.


butanol dehydrogenase activity

Catalysis of the reaction: butanal + NADH + H+ => n-butanol + NAD+.


alcohol dehydrogenase activity, iron-dependent

Catalysis of the reaction: an alcohol + NAD+ = an aldehyde or ketone + NADH + H+, requiring the presence of iron.


xanthoxin dehydrogenase activity

Catalysis of the reaction: NAD+ + xanthoxin = (+)-abscisic aldehyde + H+ + NADH.


alcohol dehydrogenase activity, metal ion-independent

Catalysis of the reaction: an alcohol + NAD+ = an aldehyde or ketone + NADH + H+; can proceed in the absence of a metal ion.


regulation of timing of meristematic phase transition

Any process that modulates the rate, frequency or extent of a change in identity of a meristem at a characteristic predetermined time point.


regulation of timing of transition from vegetative to reproductive phase

The process controlling the point in time during development when a vegetative meristem will change its identity to become an inflorescence or floral meristem, and/or the rate at which the change occurs.


histone H3K27 trimethyltransferase activity

Catalysis of the reaction: L-lysyl27-[histone H3] + 3 S-adenosyl-L-methionine = 3 H+ + N6,N6,N6-trimethyl-L-lysyl27-[histone H3] + 3 S-adenosyl-L-homocysteine. This reaction is the successive addition of three methyl groups to the unmethylated lysine residue at position 27 of histone H3, producing histone H3K27me3.


histone H3K27 monomethyltransferase activity

Catalysis of the reaction: L-lysyl27-[histone H3] + S-adenosyl-L-methionine = H+ + N6-methyl-L-lysyl27-[histone H3] + S-adenosyl-L-homocysteine. This reaction is the addition of a single methyl group to the unmethylated lysine residue at position 27 of histone H3, producing histone H3K27me.


histone H3K27 dimethyltransferase activity

Catalysis of the reaction: L-lysyl27-[histone H3] + 2 S-adenosyl-L-methionine = 2 H+ + N6,N6-dimethyl-L-lysyl27-[histone H3] + 2 S-adenosyl-L-homocysteine. This reaction is the successive addition of two methyl groups to the unmethylated lysine residue at position 27 of histone H3, producing histone H3K27me2.


non-professional antigen presenting cell antigen processing and presentation

The process in which a non-professional antigen presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. Non-professional antigen presenting cells include all cell types but dendritic cells, B cells, T cells, monocytes, macrophages, and neutrophils.


mesocestoidiasis

An disease or disorder caused by infection with Mesocestoides.


Refractory Vaginal Squamous Cell Carcinoma

Vaginal squamous cell carcinoma that is resistant to treatment.


glucosamine kinase activity

Catalysis of the reaction: ATP + D-glucosamine = ADP + D-glucosamine phosphate.


negative regulation of muscle cell chemotaxis toward tendon cell

Any process that stops, prevents or reduces the frequency, rate or extent of the directed movement of a muscle cell towards a tendon cell in response to an external stimulus. For example, when the muscle cell arrives at the target tendon cell, migration is arrested so that attachments can be made between the cells.


regulation of muscle cell chemotaxis toward tendon cell

Any process that modulates the frequency, rate or extent of muscle cell chemotaxis toward tendon cell.


positive regulation of skeletal muscle satellite cell proliferation

Any process that activates or increases the frequency, rate or extent of skeletal muscle satellite cell proliferation.


positive regulation of growth factor dependent skeletal muscle satellite cell proliferation

Any process that activates or increases the frequency, rate or extent of satellite cell proliferation; dependent on specific growth factor activity such as fibroblast growth factors and transforming growth factor beta.


fibrous meningioma

A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.


zinc D-Ala-D-Ala carboxypeptidase activity

Catalysis of the cleavage of the D-alanyl-D-alanine bond in (Ac)2-L-lysyl-D-alanyl-D-alanine.


Larsen-like syndrome, B3GAT3 type

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.


positive regulation of cellodextrin catabolic process

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


positive regulation of cellodextrin metabolic process

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


positive regulation of xylan catabolic process

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


positive regulation of arabinoxylan-containing compound catabolic process

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


positive regulation of mannan catabolic process

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


positive regulation of glucuronoxylan catabolic process

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


positive regulation of glucuronoarabinoxylan catabolic process

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


positive regulation of glucomannan catabolic process

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


primary ciliary dyskinesia 13

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.


kanamycin biosynthetic process

The chemical reactions and pathways resulting in the formation of kanamycin.


aminoglycoside antibiotic biosynthetic process

The chemical reactions and pathways resulting in the formation of an aminoglycoside antibiotic, any member of a group of broad spectrum antibiotics, of similar toxicity and pharmacology, that contain an aminodeoxysugar, an amino- or guanidino-substituted inositol ring, and one or more residues of other sugars. The group includes streptomycin, neomycin, framycetin, kanamycin, paromomycin, and gentamicin.


gentamycin biosynthetic process

The chemical reactions and pathways resulting in the formation of gentamycin.


neomycin biosynthetic process

The chemical reactions and pathways resulting in the formation of neomycin.


paromomycin biosynthetic process

The chemical reactions and pathways resulting in the formation of paromomycin.


2:1 Atrioventricular Block by ECG Finding

An electrocardiographic finding of a supraventricular rhythm where the ratio of impulses generated above the atrioventricular node to the number of impulses conducted through to the ventricles is 2:1. This is manifested on the ECG as 2 P waves per QRS complex. (CDISC)


negative regulation of lactation

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


Myeloblasts 5-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5-19 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


Myeloblasts 10-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a peripheral blood sample are immature mononuclear cells of myeloid origin.


Factor V Inactivation

Presence of inactivating antibodies to factor V in the blood.


acquired factor V deficiency

An acquired coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.


decanoate-[HmqF protein] ligase activity

Catalysis of the reaction: decanoate + ATP(4-) + an HmqF protein <=> AMP(2-) + diphosphoric acid + a decanoyl-HmqF protein.


butyryl-CoA biosynthetic process

The chemical reactions and pathway resulting in the formation of butyryl-CoA.


butyryl-CoA biosynthetic process from acetyl-CoA

The chemical reactions and pathway resulting in the formation of butyryl-CoA, starting from acetyl-CoA.


protein-N(PI)-phosphohistidine-mannose phosphotransferase system transporter activity

Catalysis of the PEP-dependent, phosphoryl transfer-driven transport of substances across a membrane. The transport happens by catalysis of the reaction: protein N-phosphohistidine + mannose(out) = protein histidine + mannose phosphate(in). This differs from primary and secondary active transport in that the solute is modified during transport.


myenteric nerve plexus of appendix

Myenteric nerve plexus that is located in the vermiform appendix.


myenteric nerve plexus of anorectum

Myenteric nerve plexus that is located in the anorectum.


myenteric nerve plexus of colon

Myenteric nerve plexus that is located in the colon.


myenteric nerve plexus of small intestine

Myenteric nerve plexus that is part of the small intestine.


Gallbladder Adenoma, Intestinal-Type

An adenoma that arises from the gallbladder and is associated with intestinal-type differentiation.


neoplastic polyp

A term that includes all polypoid growth from the inner lining of the mucous membrane.


Cervical Microglandular Polyp

A benign endocervical polypoid epithelial hyperplasia characterized by the presence of tightly packed glandular structures. It is usually seen in women on oral contraceptive therapy and during pregnancy.


tubular adenoma of stomach

An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a tubular architectural pattern.


Precancerous Polyp

A polyp with severe dysplastic features.


villous adenoma of stomach

An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a villous architectural pattern.


adenomatous polyp of stomach

A neoplastic polyp that arises from the stomach. It is associated with intestinal-type differentiation. The presence of high grade dysplasia and a size of more than 2 cm are factors that increase the risk of malignant transformation.


Ampulla of Vater Tubular Adenoma

An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of tubular epithelial structures and it is associated with dysplasia.


polyp of middle ear

A benign polypoid growth in the middle ear.


Ampulla of Vater Villous Adenoma

An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.


Adenomatous Polyps

A polypoid neoplasm arising from the glandular epithelium of the gastrointestinal tract. There is proliferation of glandular cells which may display dysplastic cytologic features. Representative examples include the adenomatous polyps of the colon and rectum..


Endocervical polyp

A polyp that arises from the endocervix. It is characterized by the presence of endocervical glands and a fibrovascular stroma.


Fallopian Tube Endometrioid Polyp

An adenomatous polyp that arises from the interstitial portion of the fallopian tube and is characterized by the presence of endometrial epithelium.  It may obstruct the lumen of the fallopian tube and result in infertility or tubal pregnancy.


Colorectal Adenomatous Polyp

A polypoid adenoma that arises from and protrudes into the lumen of the colon or rectum.  Epithelial dysplasia is always present.  According to the architectural pattern it is classified as tubular, tubulovillous, or villous.


Adenoma of ampulla of Vater

An adenoma that arises from the ampulla of Vater and resembles the adenomas of the small and large intestines.  Morphologically, according to the growth pattern, it may be classified as tubular, tubulovillous, or villous.  Dysplasia is always present.  Jaundice may be an early symptom.


Adenomatous polyp of rectum

A polypoid adenoma that arises from and protrudes into the lumen of the rectum.  Epithelial dysplasia is always present.  According to the architectural pattern it is classified as tubular, tubulovillous, or villous.


polyposis

A condition characterized by the presence of numerous polyps.


Intestinal-type adenoma

An adenoma that arises from the glandular epithelium of the gastrointestinal tract and is associated with intestinal-type differentiation.


tubulovillous adenoma of stomach

An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a tubulovillous architectural pattern.


polyp of external auditory canal

A polyp that involves the external acoustic meatus.


Eosinophilic granulomatous polyp

A benign, often polypoid, hypocellular fibroblastic neoplasm with a predilection for the stomach and ileum, containing a prominent inflammatory infiltrate, especially eosinophils. (WHO 2019)


tubulopapillary adenoma of gallbladder

A grossly visible non-invasive neoplasm of the gallbladder composed of uniform back-to-back mucinous glands arranged in a tubular configuration. (WHO 2019)


myxoid/round cell liposarcoma

Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.


ovarian myxoid liposarcoma

A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.


round cell liposarcoma

A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.


metanephric mesenchymal cell migration

The orderly movement of undifferentiated metanephric mesenchymal cells (precursors to metanephric mesangial cells) from the mesenchyme into the cleft of the developing glomerulus, during development of the metanephros.


bidirectional double-stranded viral DNA replication

A viral DNA replication process where replication occurs in both directions from the starting point. This creates two replication forks, moving in opposite directions.


1,2-alpha-L-fucosidase activity

Catalysis of the reaction: H2O + methyl-2-alpha-L-fucopyranosyl-beta-D-galactoside = L-fucose + methyl beta-D-galactoside.


Vaginal Cancer by AJCC v8 Stage

A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas of the vagina. There is no AJCC staging system for mucosal melanoma of the vagina. (from AJCC 8th Ed.)


Stage III Vaginal Cancer AJCC v8

Stage III includes: (T1-T3, N1, M0); (T3, N0, M0). T1: Tumor confined to the vagina. T2: Tumor invading paravaginal tissues but not to pelvic sidewall. T3: Tumor extending to the pelvic sidewall and/or involving the lower third of the vagina and/or causing hydronephrosis or nonfunctioning kidney. N0: No regional lymph node metastasis. N1: Pelvic or inguinal lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IV Vaginal Cancer AJCC v8

Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Tumor invading the mucosa of the bladder or rectum and/or extending beyond the true pelvis (bullous edema is not sufficient evidence to classify a tumor as T4). M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)


Stage II Vaginal Cancer AJCC v8

Stage II includes: IIA: T2a, N0, M0; IIB: T2b, N0, M0. T2a: Tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. T2b: Tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIA Vaginal Cancer AJCC v8

Stage IIA includes: T2a, N0, M0. T2a: Tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIB Vaginal Cancer AJCC v8

Stage IIB includes: T2b, N0, M0. T2b: Tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IVB Vaginal Cancer AJCC v8

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


regulation of anterograde dense core granule transport

Any process that modulates the frequency, rate or extent of anterograde dense core granule transport.


positive regulation of early endosome to recycling endosome transport

Any process that activates or increases the frequency, rate or extent of early endosome to recycling endosome transport.


regulation of dense core granule transport

Any process that modulates the frequency, rate or extent of dense core granule transport.


positive regulation of retrograde transport, endosome to Golgi

Any process that activates or increases the frequency, rate or extent of retrograde transport, endosome to Golgi.


negative regulation of retrograde dense core granule transport

Any process that stops, prevents or reduces the frequency, rate or extent of retrograde dense core granule transport.


negative regulation of retrograde transport, endosome to Golgi

Any process that stops, prevents or reduces the frequency, rate or extent of retrograde transport, endosome to Golgi.


negative regulation of anterograde dense core granule transport

Any process that stops, prevents or reduces the frequency, rate or extent of anterograde dense core granule transport.


regulation of retrograde dense core granule transport

Any process that modulates the frequency, rate or extent of retrograde dense core granule transport.


regulation of retrograde transport, endosome to Golgi

Any process that modulates the frequency, rate or extent of retrograde transport, endosome to Golgi.


positive regulation of dense core granule transport

Any process that activates or increases the frequency, rate or extent of dense core granule transport.


negative regulation of dense core granule transport

Any process that stops, prevents or reduces the frequency, rate or extent of dense core granule transport.


positive regulation of retrograde dense core granule transport

Any process that activates or increases the frequency, rate or extent of retrograde dense core granule transport.


positive regulation of anterograde dense core granule transport

Any process that activates or increases the frequency, rate or extent of anterograde dense core granule transport.


epicardium-derived cardiac fibroblast cell differentiation

The process in which an epicardial cell acquires the specialized structural and/or functional features of a cardiac fibroblast. A cardiac fibroblast is a connective tissue cell in the heart which secretes an extracellular matrix rich in collagen and other macromolecules.


retinal rod cell fate commitment

The process in which the developmental fate of a cell becomes restricted such that it will develop into a retinal rod cell. A retinal rod cell is one of the two photoreceptor subtypes in a camera-type eye.


R3/R4 cell fate commitment

The process in which the R3/R4 photoreceptors commit to their cell fate. R3 and R4 are paired photoreceptors which contribute the outer rhabdomeres.


R8 cell fate commitment

The process in which the R8 photoreceptor commits to its cell fate. The R8 receptor contributes the central part of the rhabdomere in the basal parts of the ommatidium.


R7 cell fate commitment

The process in which the R7 photoreceptor commits to its cell fate. The R7 receptor contributes the central part of the rhabdomere in the apical parts of the ommatidium.


compound eye photoreceptor fate commitment

The process in which the developmental fate of a cell becomes restricted such that it will develop into a compound eye photoreceptor cell. A photoreceptor cell is a cell that responds to incident electromagnetic radiation. Different classes of photoreceptor have different spectral sensitivities and express different photosensitive pigments.


R2/R5 cell fate commitment

The process in which the R2/R5 photoreceptors commit to their cell fate. R2 and R5 are paired photoreceptors which contribute the outer rhabdomeres.


R1/R6 cell fate commitment

The process in which the R1/R6 photoreceptors commit to their cell fate. R1 and R6 are paired photoreceptors which contribute the outer rhabdomeres.


retinal cone cell fate commitment

The process in which the developmental fate of a cell becomes restricted such that it will develop into a retinal cone cell. A retinal cone cell is one of the two photoreceptor subtypes in a camera-type eye.


ocellus photoreceptor cell fate commitment

The process in which the developmental fate of a cell becomes restricted such that it will develop into photoreceptor cell in the ocellus. A photoreceptor cell is a cell that responds to incident electromagnetic radiation. Different classes of photoreceptor have different spectral sensitivities and express different photosensitive pigments.


internal thoracic artery

An artery that supplies the anterior chest wall and the breasts. It is a paired artery, with one running along each side of the sternum, to continue after its bifurcation as the superior epigastric and musculophrenic arteries. [WP,unvetted].


peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity

Any peptidyl-tyrosine dephosphorylation that is involved in inactivation of protein kinase activity.


The removal of phosphate residues from peptidyl-N-phospho-arginine to form peptidyl-arginine.


peptidyl-histidine dephosphorylation

The removal of phosphoric residues from peptidyl-O-phospho-L-histidine to form peptidyl-histidine.


peptidyl-tyrosine dephosphorylation involved in activation of protein kinase activity

Any peptidyl-tyrosine dephosphorylation that is involved in activation of protein kinase activity.


Pyridoxamine phosphate

A vitamin B6 phosphate that is the  phosphoric ester derivative of pyridoxamine.


Pyridoxamine

A monohydroxypyridine that is pyridine substituted by a hydroxy group at position 3, an aminomethyl group at position 4, a hydroxymethyl group at position 5 and a methyl group at position 2. The 4-aminomethyl form of vitamin B6, it is used (in the form of the hydrochloride salt) for treatment of diabetic nephropathy.


desmosome maintenance

The maintenance of a desmosome. A desmosome is a patch-like intercellular junctions found in vertebrate tissues, consisting of parallel zones of two cell membranes, separated by an interspace of 25-35 nm, and having dense fibrillar plaques in the subjacent cytoplasm.


desmosome disassembly

The controlled breakdown of a desmosome. A desmosome is a patch-like intercellular junction found in vertebrate tissues, consisting of parallel zones of two cell membranes, separated by an space of 25-35 nm, and having dense fibrillar plaques in the subjacent cytoplasm.


Decreased Corpora Lutea

A decrease in the number of corpora lutea within the ovary.


Prostate Stromal Proliferation of Uncertain Malignant Potential

A neoplastic lesion that arises from the prostate gland stroma.  Morphologic characteristics include hypercellular stroma with scattered atypical cells, prominent overgrowth of the prostatic stroma, or changes resembling benign phyllodes tumor.  The majority of cases do not have an aggressive clinical course.  A minority of cases however, may progress to stromal sarcoma.


tibial muscular dystrophy

A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.


Meyerson Nevus

A benign melanocytic nevus surrounded by eczematous changes.


cellular response to mycotoxin

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mycotoxin stimulus. A mycotoxin is a toxic chemical substance produced by fungi.


extrathymic T cell selection

The process of T cell selection that occurs in extrathymic locations, often resulting T cells of distinct specificities from those selected in the thymus.


positive extrathymic T cell selection

The process of sparing extrathymically maturing T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death.


negative extrathymic T cell selection

The process of elimination of extrathymically maturing T cells which react strongly with self-antigens.


male urethral gland

Any of the numerous small mucous-secreting glands located in the wall of the penile urethra.


Metastatic malignant neoplasm to supraclavicular lymph nodes

The spread of a malignant neoplasm from its original site of growth to supraclavicular lymph nodes.


metastatic malignant neoplasm in the lymph nodes

The spread of a malignant neoplasm to the lymph nodes.


Metastatic Malignant Neoplasm in the Regional Lymph Nodes

The spread of a malignant neoplasm from its original site of growth to nearby lymph nodes.


Breast Carcinoma Metastatic in the Lymph Nodes

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


Metastatic malignant neoplasm to mediastinal lymph nodes

The spread of a malignant neoplasm to the mediastinal lymph nodes from an adjacent or distant anatomic site.


Prostate Carcinoma Metastatic in the Lymph Nodes

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


Metastatic Squamous Cell Carcinoma in the Cervical Lymph Nodes

A squamous cell carcinoma that has spread from its original site of growth to the cervical lymph nodes.


Dextro-Transposition of the Great Vessels with Intact Ventricular Septum

A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with the notable absence of any pathologic opening between the cardiac ventricles.


positive regulation of muscle hyperplasia

Any process that activates or increases the frequency, rate or extent of muscle hyperplasia.


leukotriene D4 biosynthetic process

The chemical reactions and pathways resulting in the formation of leukotriene D4.


Central Nervous System Teratoma with Malignant Transformation

A central nervous system teratoma characterized by the presence of a malignant component. The malignant component most often is sarcomatous (rhabdomyosarcoma or undifferentiated sarcoma) or carcinomatous (squamous cell carcinoma or adenocarcinoma).


Sellar Teratoma with Malignant Transformation

A teratoma with malignant transformation that arises from or adjacent to the sellar region.


HIV wasting syndrome

Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).


Stage IA1 Cervical Cancer

Stage IA1 includes: T1a1, N0, M0.  T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 mm or less in horizontal spread.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IA Cervical Cancer AJCC v6 and v7

Stage IA includes: IA (T1a, N0, M0); IA1 (T1a1, N0, M0); IA2 (T1a2, N0, M0).  T1a: Invasive carcinoma diagnosed only by microscopy. Stromal invasion with a maximum depth of 5.0 mm measured from the base of the epithelium and a horizontal spread of 7.0 mm or less. Vascular space involvement, venous or lymphatic, does not affect classification. T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 or less horizontal spread.  T1a2: Measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IA2 Cervical Cancer

Stage IA2 includes: T1a2, N0, M0.  T1a2: Measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Machado-Joseph disease type 2

Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.


Machado-Joseph disease

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.


Machado-Joseph disease type 4

A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.


Machado-Joseph disease type 3

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.


Machado-Joseph disease type 5

A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia.


Machado-Joseph disease type 1

Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.


proximal superior pancreatic lymph node

Superior pancreatic lymph node located along the proximal segment of splenic artery.


Steroid Resistant Gastrointestinal Tract Acute Graft Versus Host Disease

Acute graft versus host disease occurring in the gastrointestinal tract that is resistant to treatment with steroids.


CGG codon-amino acid adaptor activity

A triplet codon-amino acid adaptor activity that recognizes a CGG codon.


parotid disorder

A disease involving the parotid gland.


parotid gland neoplasm

A neoplasm (disease) that involves the parotid gland.


benign neoplasm of parotid gland

A benign neoplasm that involves the parotid gland.


inosine salvage

Any process that generates inosine, hypoxanthine riboside, from derivatives of it without de novo synthesis.


Shock From Lead

Unintended electric shock from patient leads.


positive regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis

Any process that increases the occurrence or rate of mesenchymal stem cell death by apoptotic process that contributes to the shaping of the nephron in the mesonephros.


positive regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis

Any process that increases the occurrence or rate of mesenchymal stem cell death by apoptotic process that contributes to the shaping of the nephron.


positive regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis

Any process that increases the occurrence or rate of mesenchymal stem cell death by apoptotic process that contributes to the shaping of the nephron in the metanephros.


regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis

Any process that modulates the occurrence or rate of mesenchymal stem cell death by apoptotic process that contributes to the shaping of the nephron in the mesonephros.


positive regulation of somatic stem cell population maintenance

Any process that activates or increases the frequency, rate or extent of somatic stem cell population maintenance.


negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis

Any process that reduces the occurrence or rate of mesenchymal stem cell death by apoptotic process that contributes to the shaping of the nephron in the mesonephros.


positive regulation of single-species biofilm formation on inanimate substrate

Any process that activates or increases the frequency, rate or extent of single-species biofilm formation on inanimate substrate.


disseminated nephrocyte differentiation

The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a disseminated nephrocyte. A disseminated nephrocyte is an insect renal cell that filters hemolymph and is found at scattered locations in the fat body or other tissues. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.


nephrocyte differentiation

The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a nephrocyte. A nephrocyte is an insect renal cell that filters hemolymph. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.


garland nephrocyte differentiation

The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a garland nephrocyte. A garland nephrocyte is an insect renal cell that filters hemolymph and forms a ring with other garland nephrocytes around the esophagus. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.


ectopic Cushing syndrome

Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.


ACTH-independent adrenal Cushing syndrome, somatic


ACTH-independent macronodular adrenal hyperplasia 1


Cushing syndrome due to macronodular adrenal hyperplasia

A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.


ACTH-independent macronodular adrenal hyperplasia 2

Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.


ACTH-dependent Cushing syndrome

Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).


ACTH-independent Cushing syndrome

Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).


intracellular sodium activated potassium channel activity

Enables the transmembrane transfer of potassium by a channel that opens in response to stimulus by a sodium ion or ions. Transport by a channel involves facilitated diffusion of a solute (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel, without evidence for a carrier-mediated mechanism. Sodium activated potassium channels have distinctive properties, including a large single channel conductance, subconductance states, and a block of single channel currents at positive potentials, similar to inward rectification.


mechanosensitived potassium channel activity

Enables the transmembrane transfer of a potassium ion by a channel that opens in response to a mechanical stress.


G-protein gated potassium channel activity

A potassium channel activity that is gated by binding of a G-protein beta-gamma dimer.


mitochondrial ATP-gated potassium channel activity

Enables the ATP-dependent diffusion of a potassium ion across the mitochondrial inner membrane.


voltage-gated potassium channel activity involved in SA node cell action potential repolarization

Enables the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of an SA node cell contributing to the repolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.


voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization

Enables the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of a bundle of His cell contributing to the repolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.


voltage-gated potassium channel activity involved in SA node cell action potential depolarization

Enables the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of an SA node cardiac muscle cell contributing to the depolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.


Intermediate conductance calcium-activated potassium channel activity

Enables the transmembrane transfer of potassium by a channel with a unit conductance of 20 to 85 picoSiemens that opens in response to stimulus by internal calcium ions. Intermediate conductance calcium-activated potassium channels are more sensitive to calcium than are large conductance calcium-activated potassium channels. Transport by a channel involves catalysis of facilitated diffusion of a solute (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel, without evidence for a carrier-mediated mechanism.


open rectifier potassium channel activity

Enables the transmembrane transfer of a potassium ion by an open rectifier voltage-gated channel. An open rectifier current-voltage relationship is one in which the direction of rectification depends on the external potassium ion concentration.


voltage-gated potassium channel activity involved in Purkinje myocyte action potential repolarization

Enables the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of a Purkinje myocyte contributing to the repolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.


G-protein gated potassium channel activity involved in regulation of postsynaptic membrane potential

Any G-protein gated potassium channel activity that is involved regulation of postsynaptic membrane potential.


voltage-gated potassium channel activity involved in AV node cell action potential repolarization

Catalysis of the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of an AV node cardiac muscle cell contributing to the repolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.


aldehyde dehydrogenase (quinone) activity

Catalysis of the reaction: an aldehyde + a quinone + H2O = a carboxylate + a quinol.


extrahepatic bile duct

Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct.


Hilar Portion of the Left Hepatic Duct

The segment of the left hepatic duct located in the hilum of the liver.


Distal Common Bile Duct

The section of the tube-like structure carrying bile that is closest to the intestine and furthest from the hepatic and cystic ducts.


cystic duct

The tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct.


hilar portion of hepatic duct

The segment of either hepatic duct located in the hilum of the liver.


Hilar Portion of the Right Hepatic Duct

The segment of the right hepatic duct located in the hilum of the liver.


Distal 1/3 of the Common Bile Duct

One third of the tube-like structure carrying bile that is closest to the intestine and furthest from the hepatic and cystic ducts.


microphthalmia, isolated, with coloboma 4


Catalysis of the reaction: anthocyanidin + UDP-D-glucose = anthocyanidin-3-O-D-glucoside + UDP.


Hemoglobin SE disease

A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin E mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease.


Stage IV Colorectal Neuroendocrine Tumor AJCC v8

Stage IV includes: (T1, Any N, M1); (T2, Any N, M1); (T3, Any N, M1); (T4, Any N, M1). T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. M1: Distant metastasis. (AJCC 8th ed.)


Stage IV Colon Neuroendocrine Tumor AJCC v8


Stage IV Rectal Neuroendocrine Tumor AJCC v8


detection of endogenous biotic stimulus

The series of events in which an endogenous biotic stimulus is received by a cell and converted into a molecular signal.


Pyogenic granuloma of oral mucosa

A lobular hemangioma arising from the oral mucosa.


Airway Infantile Hemangioma

A rare infantile hemangioma in the airway, usually in the subglottic area or trachea. It may or may not be associated with cutaneous lesions. It is a potentially life-threatening condition and the infant should be closely monitored for signs of airway disease.


Senile hemangioma of lip

A capillary hemangioma arising from the lip and presenting as a papular lesion.


Pyogenic granuloma of skin and subcutaneous tissue

A lobular hemangioma arising from the skin and attached subcutaneous tissues.


Anastomosing Hemangioma

An unusual variant of capillary hemangioma. It is characterized by a unique anastomosing sinusoidal-like architecture which may mimic angiosarcoma. It was originally described in the kidney but rare cases have been reported in other sites.


Infantile hemangioma of liver

A capillary hemangioma that arises from the liver. It occurs in infants and children.


Infantile hemangioma

A capillary hemangioma that may regress spontaneously.  It occurs in infants and children.


Multiple Lobular Capillary Hemangiomas

A lobular hemangioma present in multiple anatomic sites.


Capillary hemangioma of orbit

A capillary hemangioma arising from the orbit.


Cardiac Capillary Hemangioma

A capillary hemangioma arising from the heart.


metastatic malignant neoplasm in the colon

The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.


neoplastic meningitis

Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia and arachnoid) and subarachnoid space. The most common primary tumors metastasizing to the leptomeninges are breast and lung carcinomas, melanoma, aggressive non-Hodgkin lymphoma, and acute lymphocytic leukemia.


metastatic malignant neoplasm in the eye

A malignant neoplasm that has spread to the eye from another anatomic site.


metastatic malignant neoplasm

A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site.


secondary malignant neoplasm

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


Foreign body in penis

Extraneous material located within the penis.


Postoperative shock

A state of shock following a surgical operation.


Stage II Appendix Neuroendocrine Tumor AJCC v7

Stage II includes: T2, T3, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm or with extension to the cecum. T3: Tumor more than 4 cm or with extension to the ileum.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Adult Ependymoma

An ependymoma occurring in adults.


Advanced Genitourinary System Carcinoma

A genitourinary system carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Bladder Urothelial Carcinoma

Bladder urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Urethral Urothelial Carcinoma

Urethral urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Vaginal Adenosquamous Carcinoma

Vaginal adenosquamous carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Endometrial Carcinoma

An endometrial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Fallopian Tube Carcinoma

Fallopian tube carcinoma that has spread extensively from its original site of growth to other anatomic sites or is no longer responding to treatment.


Advanced Ureter Urothelial Carcinoma

Ureter urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Cervical Squamous Cell Carcinoma

Cervical squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Penile Carcinoma

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


Advanced Vaginal Squamous Cell Carcinoma

Vaginal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Cervical Carcinoma

A cervical carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Bladder Carcinoma

A bladder carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Ovarian Carcinoma

An ovarian carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Urothelial Carcinoma

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


Advanced Renal Pelvis and Ureter Urothelial Carcinoma

Renal pelvis and ureter urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Microsatellite Stable Ovarian Carcinoma

Microsatellite stable ovarian carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Microsatellite Stable Endometrial Carcinoma

Microsatellite stable endometrial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Vaginal Carcinoma

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


Advanced Vulvar Carcinoma

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


Advanced Prostate Carcinoma

A prostatic carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Vaginal Squamous Cell Carcinoma, Not Otherwise Specified

Vaginal squamous cell carcinoma, not otherwise specified that that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Cervical Adenosquamous Carcinoma

Cervical adenosquamous carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


hereditary continuous muscle fiber activity

Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.


posterior lateral line system development

The process whose specific outcome is the progression of the posterior lateral line system over time, from its formation to the mature structure. The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance.


basal ganglia calcification, idiopathic, 1

An autosomal dominant condition caused by mutation(s) in the SLC20A2 gene, encoding sodium-dependent phosphate transporter 2. It is characterized by calcification of the basal ganglia.


tert-butanol 2-monooxygenase activity

Catalysis of the reaction: tert-butanol + 1/2 O2 = 2-methyl-2-hydroxy-1-propanol.


retinitis pigmentosa 2

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.


RP2-related retinopathy

A retinopathy caused by variants in the X-linked gene, RP2.


Recurrent Grade II Lymphomatoid Granulomatosis

The reemergence of grade II lymphomatoid granulomatosis after a period of remission.


Recurrent Grade I Lymphomatoid Granulomatosis

The reemergence of grade I lymphomatoid granulomatosis after a period of remission.


Recurrent Childhood Lymphomatoid Granulomatosis

The reemergence of lymphomatoid granulomatosis in childhood after a period of remission.


Extraocular Cutaneous Sebaceous Carcinoma

A rare variant of sebaceous carcinoma that does not affect the ocular region.


Conjunctival Sebaceous Carcinoma

A rare sebaceous carcinoma that arises from the conjunctiva.


sebaceous carcinoma of salivary gland

A rare sebaceous carcinoma that arises from the salivary glands.


Head and Neck Sebaceous Carcinoma

A sebaceous carcinoma that arises from the head and neck region.


distal early tubule

Portion of the renal tubule which is just posterior to the proximal straight tubule.


Tropical Disease

Infectious and parasitic diseases endemic in tropical and subtropical zones, including Chagas' disease, leishmaniasis, leprosy, malaria, onchocerciasis, schistosomiasis, sleeping sickness, yellow fever, and others; often water- or insect-borne.


infection by Trypanosoma gambiense

Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.


early yaws

Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly.


infection by Trypanosoma rhodesiense

An infection with Trypanosoma brucei rhodesiense.


late yaws

Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints.


yaws

An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease.


peripheral lymph node

The lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes.


pectoral axillary lymph node

An axiallary lymph node along the lower border of the Pectoralis minor, in relation with the lateral thoracic artery. Their afferents drain the skin and muscles of the anterior and lateral thoracic walls, and the central and lateral parts of the mamma; their efferents pass partly to the central and partly to the subclavicular groups of axillary glands.


apical axillary lymph node

An axillary lymph node that is situated partly posterior to the upper portion of the Pectoralis minor and partly above the upper border of this muscle.


submandibular lymph node

The submandibular lymph nodes (submaxillary glands in older texts), three to six in number, are placed beneath the body of the mandible in the submaxillary triangle, and rest on the superficial surface of the submaxillary salivary gland. One gland, the middle gland of Stahr, which lies on the external maxillary artery as it turns over the mandible, is the most constant of the series; small lymph glands are sometimes found on the deep surface of the submaxillary salivary glands. The afferents of the submaxillary glands drain the medial palpebral commissure, the cheek, the side of the nose, the upper lip, the lateral part of the lower lip, the gums, and the anterior part of the margin of the tongue. Efferent vessels from the facial and submental glands also enter the submaxillary glands. Their efferent vessels pass to the superior deep cervical glands. [WP,unvetted].


The superficial anterior cervical lymph nodes are found in proximity to the anterior jugular vein.


superficial inguinal lymph node

A group of 12-20 lymph nodes that lie in the subcutaneous tissue below the inguinal ligament and along the terminal part of the great saphenous vein; they drain the skin and subcutaneous tissue of the lower abdominal wall, perineum, buttocks, external genitalia, and lower limbs.


superficial cervical lymph node

A group of nodes lying along the external jugular vein; they drain the skin and superficial structures over the region of the sternocleidomastoid muscle and anterior cervical regions. Efferent vessels drain to the deep cervical lymph nodes. Lymph nodes can be further subdivided into anterior and lateral groupings.


proximal deep inguinal lymph node

One of the deep inguinal lymph nodes located in or adjacent to the femoral canal; sometimes mistaken for a femoral hernia when enlarged.


superficial lateral cervical lymph node

The superficial lateral cervical lymph nodes are found in proximity to the external jugular vein.


popliteal lymph node

The lymph nodes which drain the legs; contained in the popliteal fossa.


subscapular axillary lymph node

An axillary lymph node that is placed along the lower margin of the posterior wall of the axilla in the course of the subscapular artery.


axillary lymph node

The lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region.


deep inguinal lymph node

One of several small inconstant lymph nodes, proximal, intermediate and distal deep to the fascia lata and medial to the femoral vein; they receive lymph from the deep structures of the lower limb, from the glans penis and from superficial inguinal nodes; efferents pass to the external iliac nodes.


central axillary lymph node

An axillary lymph node that is imbedded in the adipose tissue near the base of the axilla.


inguinal lymph node

The lymph nodes located in the groin area.


olivetolic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of olivetolic acid.


The chemical reactions and pathways resulting in the formation of 3,4-dihydroxybenzoate.


pyruvate biosynthetic process from acetate

The chemical reactions and pathways resulting in the formation of pyruvate from other compounds, including acetate.


The chemical reactions and pathways resulting in the formation of 3-(3-hydroxyphenyl)propanoate.


pantothenate biosynthetic process

The chemical reactions and pathways resulting in the formation of pantothenate, the anion of pantothenic acid. It is a B complex vitamin that is a constituent of coenzyme A and is distributed ubiquitously in foods.


coenzyme B biosynthetic process

The chemical reactions and pathways resulting in the formation of coenzyme B (7-mercaptoheptanoylthreonine phosphate), a coenzyme involved in the utilization of methane by methanogenic prokaryotes.


D-gluconate biosynthetic process

The chemical reactions and pathways resulting in the formation of D-gluconate, the anion of D-gluconic acid, the aldonic acid derived from glucose.


para-aminobenzoic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of para-aminobenzoic acid, an intermediate in the synthesis of folic acid, a compound which some organisms, e.g. prokaryotes, eukaryotic microbes, and plants, can synthesize de novo. Others, notably mammals, cannot. In yeast, it is present as a factor in the B complex of vitamins.


ketogluconate biosynthetic process

The chemical reactions and pathways resulting in the formation of ketogluconate, the anion of ketogluconic acid, an aldonic acid derived from glucose containing a ketonic carbonyl group.


leukotriene B4 biosynthetic process

The chemical reactions and pathways resulting in the formation of leukotriene B4, a leukotriene composed of (6Z,8E,10E,14Z)-eicosatetraenoic acid having (5S)- and (12R)-hydroxy substituents.


galacturonate biosynthetic process

The chemical reactions and pathways resulting in the formation of galacturonate, the anion of galacturonic acid.


The chemical reactions and pathways resulting in the formation of 3-(2,3-dihydroxyphenyl)propanoate.


nicotinate biosynthetic process

The chemical reactions and pathways resulting in the formation of nicotinate.


(R)-mandelate catabolic process to benzoate

The chemical reactions and pathways resulting in the breakdown of (R)-mandelate into other compounds, including benzoate.


pentalenolactone biosynthetic process

The chemical reactions and pathways resulting in the formation of pentalenolactone.


(R)-2-hydroxy-alpha-linolenic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of (R)-2-hydroxy-alpha-linolenic acid.


keto-D-gluconate biosynthetic process

The chemical reactions and pathways resulting in the formation of keto-D-gluconate, the anion of keto-D-gluconic acid, an aldonic acid derived from glucose.


fumagillin biosynthetic process

The chemical reactions and pathways resulting in the formation of fumagillin.


benzylpenicillin biosynthetic process

The chemical reactions and pathways resulting in the formation of benzylpenicillin.


indoleacetic acid biosynthetic process via tryptophan

The chemical reactions and pathways resulting in the formation of indole-3-acetic acid that occurs through metabolism of L-tryptophan.


D(-)-lactate biosynthetic process from pyruvate

The chemical reactions and pathways resulting in the formation of D(-)-lactate from other compounds, including pyruvate.


picolinic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of picolinic acid.


sinapate biosynthetic process

The chemical reactions and pathways resulting in the formation of sinapate, (2E)-3-(4-hydroxy-3,5-dimethoxyphenyl)prop-2-enoate.


mycophenolic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of mycophenolic acid (MPA). MPA is the first isolated antibiotic natural product in the world obtained from a culture of Penicillium brevicompactum in 1893.


regulation of fever generation by prostaglandin biosynthetic process

Any prostaglandin biosynthetic process process that regulates fever generation.


The chemical reactions and pathways resulting in the formation of 4-hydroxyphenylacetate.


L-idonate biosynthetic process

The chemical reactions and pathways resulting in the formation of L-idonate, the anion of idonic acid, an aldonic acid derived from L-idose, an aldohexose which is epimeric with D-glucose.


indoleacetic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of indole-3-acetic acid, a compound which functions as a growth regulator in plants.


cinnamic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of cinnamic acid, 3-phenyl-2-propenoic acid.


phaseic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of phaseic acid (PA), a catabolite of the plant hormone abscisic acid (ABA).


jasmonic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of jasmonic acid, a fatty acid derivative.


penicillin biosynthetic process

The chemical reactions and pathways resulting in the formation of any antibiotic that contains the condensed beta-lactamthiazolidine ring system.


(R)-mevalonic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of (R)-mevalonic acid.


lipoxin B4 biosynthetic process

The chemical reactions and pathways resulting in the formation of lipoxin B4. Lipoxin B4 is a C20 hydroxy fatty acid having (5S)-, (14R)- and (15S)-hydroxy groups as well as (6E)- (8Z)-, (10E)- and (12E)-double bonds.


cyclic 2,3-bisphospho-D-glycerate biosynthetic process

The chemical reactions and pathways resulting in the formation of cyclic 2,3-bisphospho-D-glyceric acid.


D-glucuronate biosynthetic process

The chemical reactions and pathways resulting in the formation of D-glucuronate, the D-enantiomer of glucuronate.


biotin biosynthetic process

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


salicylic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of salicylic acid (2-hydroxybenzoic acid), a derivative of benzoic acid.


mandelate biosynthetic process

The chemical reactions and pathways resulting in the formation of mandelate, the anion of mandelic acid. Mandelic acid (alpha-hydroxybenzeneacetic acid) is an 8-carbon alpha-hydroxy acid (AHA) that is used in organic chemistry and as a urinary antiseptic.


ferulate biosynthetic process

The chemical reactions and pathways resulting in the formation of ferulate, (2E)-3-(4-hydroxy-3-methoxyphenyl)prop-2-enoate.


D-lactate biosynthetic process from methylglyoxal via (R)-lactaldehyde

The chemical reactions and pathways resulting in the formation of D-lactate from methylglyoxal, via the intermediate (R)-lactaldehyde.


clavulanic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of clavulanic acid, (2R,3Z,5R)-3-(2-hydroxyethylidene)-7-oxo-4-oxa-1-azabicyclo[3.2.0]heptane-2-carboxylic acid.


leukotriene A4 biosynthetic process

The chemical reactions and pathways resulting in the formation of leukotriene A4.


glycolate biosynthetic process

The chemical reactions and pathways resulting in the formation of glycolate, the anion of hydroxyethanoic acid (glycolic acid).


butyryl-CoA catabolic process to butyrate

The chemical reactions a resulting in the resulting in the breakdown of butyryl-CoA to form butyrate.


protein deglycation, glyoxal removal

The removal of glyoxal from a glycated protein, to form glycolate and a deglycated protein.


tryptophan-independent indoleacetic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of indoleacetic acid, independent of tryptophan.


acetoacetic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of acetoacetic acid, a beta-keto acid of the keto acid group, empirical formula is C4H6O3 or CH3COCH2COOH.


glucuronate biosynthetic process

The chemical reactions and pathways resulting in the formation of glucuronate, the anion of glucuronic acid.


kynurenic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of kynurenic acid, 4-hydroxyquinoline-2-carboxylic acid.


abscisic acid biosynthetic process

The chemical reactions and pathways resulting in the formation of abscisic acid, 5-(1-hydroxy-2,6,6,trimethyl-4-oxocyclohex-2-en-1-y1)-3-methylpenta-2,4-dienoic acid.