hyperthyroidism

Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor.


Prlr

A prolactin receptor that is encoded in the genome of mouse.


Ile-Ser

A dipeptide formed from L-isoleucine and L-serine residues.


Prlr

A prolactin receptor that is encoded in the genome of rat.


receptor signaling pathway via STAT

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

An intracellular signal transduction process in which STAT proteins (Signal Transducers and Activators of Transcription) convey a signal to trigger a change in the activity or state of a cell. The STAT cascade begins with receptor activation followed by activation of STAT proteins by kinases. It proceeds through STA dimerization and subsequent nuclear translocation of STAT proteins, and ends with regulation of target gene expression by STAT proteins.


Gonadotropin releasing hormone antagonist


multiple fibroadenoma of the breast

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

Mammary polyadenomatosis is characterized by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.


dystrophin

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


Reduced muscle dystrophin expression

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

A decreased amount of dystrophin in muscle fiber tissue.


Sarcolemma of cardiac muscle cell

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


Single Parent

biolink:Cohort biolink:StudyPopulation biolink:PopulationOfIndividualOrganisms biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:SubjectOfInvestigation biolink:ThingWithTaxon


dihydroxyphenylacetic acid

A dihydroxy monocarboxylic acid consisting of phenylacetic acid having two phenolic hydroxy substituents.


Hgd

A homogentisate 1,2-dioxygenase that is encoded in the genome of mouse.


alkaptonuria

A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).


A 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 that is encoded in the genome of mouse.


Glomerular disease due to diffuse mesangial sclerosis


A neurofibromin that is encoded in the genome of mouse.


neurofibromatosis type 1 due to NF1 mutation or intragenic deletion


ovarian serous adenocarcinoma

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


systolic BP less than 140 and/or diastolic BP less than 90


TYMS

A thymidylate synthase that is encoded in the genome of human.


A P2X purinoceptor 7 that is encoded in the genome of human.


chromosome 12q24

biolink:Procedure biolink:NamedThing biolink:ActivityAndBehavior biolink:Occurrent biolink:PhysicalEssenceOrOccurrent


mood disorder

A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.


bipolar disorder

A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.


An insulin-like growth factor I that is encoded in the genome of human.


osteogenesis imperfecta

Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.


intracerebral hemorrhage

Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma.


Hemiballismus

Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.


A forkhead box protein F2 that is encoded in the genome of mouse.


sex chromosome disorder of sex development

Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism.


cleft palate

Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees.


disorder of sex development-intellectual disability syndrome

A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.


Metronidazole

A member of the class of imidazoles substituted at C-1, -2 and -5 with 2-hydroxyethyl, nitro and methyl groups respectively. It has activity against anaerobic bacteria and protozoa, and has a radiosensitising effect on hypoxic tumour cells. It may be given by mouth in tablets, or as the benzoate in an oral suspension. The hydrochloride salt can be used in intravenous infusions. Metronidazole is a prodrug and is selective for anaerobic bacteria due to their ability to intracellularly reduce the nitro group of metronidazole to give nitroso-containing intermediates. These can covalently bind to DNA, disrupting its helical structure, inducing DNA strand breaks and inhibiting bacterial nucleic acid synthesis, ultimately resulting in bacterial cell death.


macular corneal dystrophy

Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.


chondroitin 6-sulfotransferase activity

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

Catalysis of the reaction: 3'-phosphoadenosine 5'-phosphosulfate + chondroitin = adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate.


down regulation of p-nitrophenylglucuronosyltransferase activity


Disorder of glycosaminoglycan metabolism


GNPTG

An N-acetylglucosamine-1-phosphotransferase subunit gamma that is encoded in the genome of human.


mucolipidosis type III, alpha/beta

Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.


platelet factor 4 variant proteolytic cleavage product

A platelet factor 4 variant that has been processed by proteolytic cleavage.


purine deoxyribonucleoside

A deoxyribonucleoside containing a purine base.


Founder Effect

biolink:Phenomenon biolink:NamedThing biolink:Occurrent biolink:PhysicalEssenceOrOccurrent


heart

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

A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ.


mitochondrial ATP synthesis coupled electron transport

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

The transfer of electrons through a series of electron donors and acceptors, generating energy that is ultimately used for synthesis of ATP, as it occurs in the mitochondrial inner membrane or chloroplast thylakoid membrane.


melanocortin receptor 4

A melanocortin receptor that is a translation product of the human MC4R gene or a 1:1 ortholog thereof.


JUN kinase activity

Catalysis of the reaction: JUN + ATP = JUN phosphate + ADP. This reaction is the phosphorylation and activation of members of the JUN family, a gene family that encodes nuclear transcription factors.


insulin receptor substrate 1 phosphorylated 1 (rat)

An insulin receptor substrate 1 (rat) that has been phosphorylated at Ser-522. UniProtKB:P35570, Ser-522, MOD:00046.


ATP + L-seryl-[I-kappa-B protein] = ADP + H(+) + O-phospho-L-seryl-[I-kappa-B protein]


glucose import in response to insulin stimulus

The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus.


asthma

A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.


A meckelin that is encoded in the genome of human.


non-small cell lung carcinoma

A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.


Surviving free of recurrence of neoplastic disease


An adenosine receptor A2a that is encoded in the genome of human.


autism spectrum disorder

A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.


multidrug-resistant tuberculosis

A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs.


Abnormal nervous system morphology

A structural anomaly of the nervous system.


endometrium adenocarcinoma

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


TE04 Cell Line

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

Provider: Technion University, Haifa, Israel. No information from provider. This cell line meets the criteria for the use of human embryonic stem cells by federally funded researchers.


AKT kinase

A protein that has a core domain composition consisting of a PH domain (Pfam:PF00169), Protein kinase domain (Pfam:PF00069) and a Protein kinase C terminal domain (Pfam:PF00433). Mammals have three genes encoding AKT1, AKT2 and AKT3. The second messenger phosphatidylinositol-3,4,5-trisphosphate [PIP(3)], product of phosphatidylinositol 3-kinase, acts largely through its role as a kinase activator. Binding of the pleckstrin domain to PIP(3) results in its targeting to the plasma membrane. Full activity is gained only after phosphorylation at two sites.


endometrioid adenocarcinoma

An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.


Cocaine

A tropane alkaloid obtained from leaves of the South American shrub Erythroxylon coca.


Cerebral hyperperfusion syndrome

Unexpected increase in cerebral blood flow after carotid endarterectomy or carotid artery stenting presenting with a clinical triad of ipsilateral headache, seizure and focal neurologic symptoms.


cytochrome P450 1A2

A protein that is a translation product of the human CYP1A2 gene or a 1:1 ortholog thereof.


antibiotic sensitivity studies to levofloxacin


Hyperactivity

Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.


Antipsychotic Effect

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


A voltage-dependent L-type calcium channel subunit alpha-1S that is encoded in the genome of mouse.


hypokalemic periodic paralysis

Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.


vitamin D3 receptor

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


VDR

A vitamin D3 receptor that is encoded in the genome of human.


PKR-mediated signaling

A series of reactions in which a signal is passed on to downstream proteins within the cell via PKR (also known as EIF2AK2), an intracellular protein kinase that is activated by stress signals or upon binding to double-stranded RNA (dsRNA), followed by autophosphorylation. PKR plays a role in the antiviral response, phosphorylating proteins such as the translation initiation factor eIF2 to inhibit protein synthesis during viral infection. Begins with activation of PKR activity, and ends with regulation of a downstream cellular process, e.g. regulation of transcription or inhibition of translation.


A histamine H3 receptor that is encoded in the genome of mouse.


cholangiocarcinoma

A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.


cholangiocyte

An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts.


mitogen-activated protein kinase 1

A mitogen-activated protein kinase that is a translation product of the human MAPK1 gene or a 1:1 ortholog thereof.


neoplasm

A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.


Vascular Endothelial Growth Factor Receptor


HIV infectious disease

An infection caused by the human immunodeficiency virus.


HIV Seroconversion

An indication that HIV antibodies have developed and become detectable in the serum.


A forkhead box protein P3 that is encoded in the genome of mouse.


psoriasis

An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.


small cell carcinoma

A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early.


adenocarcinoma

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


Cognition

biolink:Behavior biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:OntologyClass biolink:ActivityAndBehavior biolink:Occurrent biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent


Ephedrine

A  phenethylamine alkaloid that is 2-phenylethanamine substituted by a methyl group at the amino nitrogen and a methyl and a hydroxy group at position 2 and 1 respectively.


Cardiac Output

The total volume of blood pumped by the heart over a set period of time, conventionally one minute; it is calculated as heart rate times stroke volume (CO= HR x SV), and is additionally dependent on preload and afterload for functional output.


Tranylcypromine

A member of the class of cyclopropanes carrying amino and phenyl substituents at positions 1 and 2 respectively.


essential hypertension

Hypertension that presents without an identifiable cause.


status epilepticus

A life-threatening situation in which the brain is in a continuous state of seizure.


A C-C chemokine receptor type 2 that is encoded in the genome of mouse.


A C-C motif chemokine 2 that is encoded in the genome of human.


Neuroinflammation

Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.


Zinc Sulfate

A metal sulfate compound having zinc(2+) as the counterion.


Diminished mental function after chemotherapy.


glutathione-disulfide reductase (NADP) activity

Catalysis of the reaction: 2 glutathione + NADP+ = glutathione disulfide + NADPH + H+.


Tnf

A tumor necrosis factor that is encoded in the genome of mouse.


MGMT-Methylated Glioblastoma

A glioblastoma characterized by the presence of DNA methylation in the promoter region of the MGMT gene. It is associated with improved survival.


Monoallelic Mutation Positive

An indication that a mutation has been detected in only one allele of a gene.


Acute necrotising eosinophilic myocarditis


Eosinophil to Leukocyte Ratio measurement


myocardium

The middle layer of the heart, comprised mainly of striated cardiac muscle fibers.


cardiogenic shock

A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels.


pituitary homeobox 2 sequence variant R115H (human)

A pituitary homeobox 2 (human) that has a His residue at the position equivalent to Arg-115 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Arg-115, CHEBI:29979.


chordin

A protein that is a translation product of the human CHRD gene or a 1:1 ortholog thereof. Chordin regulates signaling by BMP pathway.


CHL

A prostaglandin-H2 D-isomerase that is encoded in the genome of Arabidopsis thaliana.


Trabecular bone score (TBS), structural condition of the bone microarchitecture; using dual X-ray absorptiometry (DXA) or other imaging data on gray-scale variogram, calculation, with interpretation and report on fracture-risk


Generalized glucocorticoid resistance syndrome


A glucocorticoid receptor that is encoded in the genome of human.


AHR

An aryl hydrocarbon receptor that is encoded in the genome of human.


DNA Binding Domain

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

A region of a protein that interacts with DNA. Among the various recognized structural motifs present in DNA binding domains are the helix-loop-helix and the zinc-finger.


transcription factor NF-kappa-B subunit

A protein that has a core domain composition consisting of a Rel homology domain (RHD) (Pfam:PF00554), an IPT/TIG domain (Pfam:PF01833), six copies of the Ankyrin repeat (Pfam:PF00023), a Death domain (Pfam:PF00531) and a C-terminal PEST region.


Topiramate

A hexose derivative that is 2,3:4,5-di-O-isopropylidene-beta-D-fructopyranose in which the hydroxy group has been converted to the corresponding sulfamate ester. It blocks voltage-dependent sodium channels and is used as an antiepileptic and for the prevention of migraine.


CFH

A complement factor H that is encoded in the genome of human.


wet macular degeneration

A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.


A neuroendocrine convertase 1 that is encoded in the genome of mouse.


Insulin resistance

Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.


guanyl nucleotide

A nucleotide having guanine as the base.


A cAMP-specific 3',5'-cyclic phosphodiesterase 4D that is encoded in the genome of mouse.


ionotropic glutamate receptor signaling pathway

The series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex, and ending with the regulation of a downstream cellular process, e.g. transcription.


nephrin

A protein that is a translation product of the human NPHS1 gene or a 1:1 ortholog thereof.


dendrin

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


Angiotensin converting enzyme inhibitor therapy


growth hormone insensitivity syndrome

Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.


primary insulin-like growth factor-1 (IGF-1) deficiency


Ghr

A growth hormone receptor that is encoded in the genome of mouse.


thoracic aortic aneurysm

An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.


membrane-type 1 matrix metalloproteinase


disintegrin and metalloproteinase domain-containing protein 10

A protein that is a translation product of the human ADAM10 gene or a 1:1 ortholog thereof.


A C-C chemokine receptor type 5 that is encoded in the genome of mouse.


lupus nephritis

Glomerulonephritis in the context of systemic lupus erythematosus.


A 5-hydroxytryptamine receptor 6 that is encoded in the genome of human.


Psychotic disorder caused by methamphetamine


Addictive amphetamine use

Addiction to amphetamine or dextroamphetamine is a serious concern.


Anti H type 1 trisaccharide

An amino trisaccharide consisting of alpha-L-fucose, beta-D-galactose and N-acetyl-D-glucosamine residues joined by sequential (1->2)- and (1->3)-linkages.


Elevated systolic blood pressure

Abnormal increase in systolic blood pressure.


peripheral arterial disease

A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest.


Capecitabine

A carbamate ester that is cytidine in which the hydrogen at position 5 is replaced by fluorine and in which the amino group attached to position 4 is converted into its N-(penyloxy)carbonyl derivative. Capecitabine is a antineoplastic agent used in the treatment of cancers.


Solid Neoplasm

A benign or malignant neoplasm arising from tissues that do not include fluid areas.  Representative examples include epithelial neoplasms (e.g. lung carcinoma, prostate carcinoma, breast carcinoma, colon carcinoma), and neoplasms arising from the soft tissues and bones (e.g. leiomyosarcoma, liposarcoma, chondrosarcoma, osteosarcoma).  Neoplasms originating from the blood or bone marrow (leukemias and myeloproliferative disorders) are not considered solid tumors.


A D(4) dopamine receptor that is encoded in the genome of mouse.


aceruloplasminemia

An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.


Intraventricular hemorrhage

Bleeding into the ventricles of the brain.


Respiratory Failure, CTCAE

A disorder characterized by impaired gas exchange by the respiratory system resulting in hypoxia and a decrease in oxygenation of the tissues that may be associated with an increase in arterial levels of carbon dioxide.


A secreted Ly-6/uPAR-related protein 1 that is encoded in the genome of mouse.


mal de Meleda

Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.


T cell activation

The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.


Loss of consciousness

Loss of alertness and orientation to place and time.


Sinus Rhythm

An electrocardiographic finding of an atrial rhythm which originates from the sinoatrial node that is considered normal for the population. (CDISC)


Methicillin susceptible Staphylococcus aureus


meningitis

A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.


cerebrospinal fluid

A clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord.


Methicillin-sensitive Staphylococcus aureus bacteraemia


TXNRD2-Associated Familial Glucocorticoid Deficiency

Familial glucocorticoid deficiency caused by mutation(s) in the TXNRD2 gene encoding thioredoxin reductase 2.


A cytochrome P450 2C8 that is encoded in the genome of human.


omega-hydroxylase P450 pathway

The chemical reactions and pathways by which arachidonic acid is converted to other compounds initially by omega-hydroxylation.


Inflammation

A finding of a localized protective response resulting from injury or destruction of tissues. Inflammation serves to destroy, dilute, or wall off both the injurious agent and the injured tissue. In the acute phase, inflammation is characterized by the signs of pain, heat, redness, swelling, and loss of function. Histologically, inflammation involves a complex series of events, including dilatation of arterioles, capillaries, and venules, with increased permeability and blood flow; exudation of fluids, including plasma proteins; and leukocyte migration into the site of inflammation.


A protein disulfide isomerase CRELD1 that is encoded in the genome of human.


familial atrioventricular septal defect

A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.


Genetic Syndrome Associated with Congenital Heart Defect

Genetic anomalies and collections of malformations that are known to cluster together that can be associated with congenital heart defects. (ACC/AHA)


EGFR gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen

biolink:ClinicalAttribute biolink:Attribute biolink:NamedThing biolink:OntologyClass


Small cell carcinoma, hypercalcemic type


Analysis using mutagenically separated PCR


VEXAS syndrome

An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death.


brat

A protein that is a translation product of the brat gene in fruit fly.


Myc

A protein that is a translation product of the Myc gene in fruit fly.


intracellular vesicle pattern recognition receptor signaling pathway


germ-line stem-cell niche homeostasis

A homeostatic process involved in the maintenance of an internal steady state within the germ-line stem-cell niche. This includes control of cellular proliferation and death and control of metabolic function that allows the niche to continue to function. A gem-line stem-cell niche is an anatomical structure that regulates how germ-line stem-cells are used and saves them from depletion.


Endothelial Cells

The main type of cell forming the lining of blood and lymph vessels and the inner layer of the endocardium.


A guanylyl cyclase-activating protein 2 that is encoded in the genome of human.


cone-rod dystrophy

Inherited retinal dystrophies that belong to the group of pigmentary retinopathies.


guanylyl cyclase-activating protein 2

A protein that is a translation product of the human GUCA1B gene or a 1:1 ortholog thereof.


Weight loss

Reduction of total body weight.


microtubule-associated protein tau sequence variant G389R (human)

A microtubule-associated protein tau sequence variant (human) that has an Arg residue at the position equivalent to Gly-389 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Gly-706 in PNS-Tau). Example: UniProtKB:P10636-8, Gly-389, CHEBI:29952.


Malar rash

An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.


Severe photosensitivity

A severe degree of photosensitivity of the skin.


Sjogren-Larsson syndrome

A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.


An aldehyde dehydrogenase family 3 member A2 that is encoded in the genome of human.


1q44 microdeletion syndrome

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.


African American

biolink:PopulationOfIndividualOrganisms biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:SubjectOfInvestigation biolink:ThingWithTaxon


A dachshund homolog 1 that is encoded in the genome of human.


Glioblastoma multiforme of central nervous system


fibroblast growth factor 1

A protein that is a translation product of the human FGF1 gene or a 1:1 ortholog thereof.


chronic hepatitis C virus infection

Chronic form of hepatitis C infection.


A zinc finger protein 687 that is encoded in the genome of human.


Marfan syndrome

A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.


A fibrillin-1 that is encoded in the genome of mouse.


epididymal-specific lipocalin-5 proteolytic cleavage product

An epididymal-specific lipocalin-5 that has been processed by proteolytic cleavage.


chronic periodontitis

A chronic inflammatory process that affects the tissues that surround and support the teeth.


A C-X-C chemokine receptor type 1 that is encoded in the genome of human.


A protein that is a translation product of the human CXCL8 gene or a 1:1 ortholog thereof.


chronic lymphocytic leukemia/small lymphocytic lymphoma

An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood.


EPOR

An erythropoietin receptor that is encoded in the genome of human.


myeloid lineage restricted progenitor cell

A progenitor cell restricted to the myeloid lineage.


EPO

An erythropoietin that is encoded in the genome of human.


A tumor necrosis factor receptor superfamily member 13C that is encoded in the genome of mouse.


Proerythroblasts

The earliest of four stages in development of the normoblast.


primitive erythrocyte differentiation

Erythrocyte differentiation which occurs as part of the process of primitive hemopoiesis.


systemic sclerosis

A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.


corticosteroid

A natural or synthetic analogue of the hormones secreted by the adrenal gland.


thrombotic microangiopathy

The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation.


cyclosporin A

A cyclic nonribosomal peptide of eleven amino acids; an immunosuppressant drug widely used in post-allogeneic organ transplant to reduce the activity of the patient's immune system, and therefore the risk of organ rejection. Also causes reversible inhibition of immunocompetent lymphocytes in the G0- and G1-phase of the cell cycle.


Prostate cancer recurrent

Prostate carcinoma reemerging after a period of remission.


neuronal pentraxin-1

A protein that is a translation product of the human NPTX1 gene or a 1:1 ortholog thereof.


Neonatal hypoxic and ischemic brain injury


bone marrow

The soft tissue that fills the cavities of bones.


Colony-forming unit of granulocytic-macrophagocytic lineage (cell)


maternal diabetes affecting fetus or newborn


peripheral neuropathy

A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.


ifosfamides

Compounds containing an ifosfamide skeleton.


Urinary Tract Infection, CTCAE

A disorder characterized by an infectious process involving the urinary tract, most commonly the bladder and the urethra.


A complex III assembly factor LYRM7 that is encoded in the genome of mouse.


cytochrome c

A cytochrome c protein that is a translation product of the wheat CYC gene or a 1:1 ortholog thereof.


An RNA polymerase-associated protein CTR9 that is encoded in the genome of human.


blastocyst

The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO].


developmental process

A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition.


Cognitive impairment

Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.


Tako-tsubo cardiomyopathy

Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers.


Zolpidem

An imidazo[1,2-a]pyridine compound having a 4-tolyl group at the 2-position, an N,N-dimethylcarbamoylmethyl group at the 3-position and a methyl substituent at the 6-position.


coronary artery

An artery that supplies the myocardium.


Left Ventricular Ejection Fraction

The fraction of the left ventricular end diastolic volume ejected with each beat. The left ventricular ejection fraction is equal to the left ventricular stroke volume divided by the left ventricular end diastolic volume.


hepatitis

An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders.


A protein that is a translation product of the human MMP3 gene or a 1:1 ortholog thereof.


Overweight

Increased body weight with a body mass index of 25-29.9 kg per square meter.


reactive oxygen species

Molecules or ions formed by the incomplete one-electron reduction of oxygen. They contribute to the microbicidal activity of phagocytes, regulation of signal transduction and gene expression, and the oxidative damage to biopolymers.


hospitalization length of stay (___ days)

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An NADPH oxidase 4 that is encoded in the genome of mouse.


Intermittent negative pressure ventilation


VEGFB

A vascular endothelial growth factor B that is encoded in the genome of human.


vascular endothelial growth factor receptor 2

A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof.


anorectal malformation

An abnormality of the anus or rectum.


A phenylalanine derivative that is phenylalanine in which the amino group is substituted by a [(E)-{[(Z)-2-amino-1,2-dicyanoethenyl]imino}methyl]amino group. It is a chemical intermediate for nucleotide synthesis.


A bone morphogenetic protein 1 that is encoded in the genome of human.


necrotizing fasciitis

Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue.


Mental and behavioral disorders due to use of opioids, dependence syndrome


ginsenoside

Triterpenoid saponins with a dammarane-like skeleton originally isolated from ginseng (Panax) species. Use of the term has been extended to include semi-synthetic derivatives.


Ginsenoside Rb1

A ginsenoside found in Panax ginseng and Panax japonicus var. major that is ginsenoside Rd in which the beta-D-glucopyranoside group at position 20 is replaced by a beta-D-glucopyranosyl-beta-D-glucopyranoside group.


A protein CMSS1 that is encoded in the genome of mouse.


Blocking Agent for Diagnostic Imaging [EPC]


Benzothiazepine derivative selective calcium channel blockers with direct cardiac effects


A macrophage colony-stimulating factor 1 that is encoded in the genome of human.


interleukin-3 production

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


An interleukin-10 that is encoded in the genome of human.


Metformin

A member of the class of guanidines that is biguanide the carrying two methyl substituents at position 1.


Toll-like receptor 4 binding

Binding to a Toll-like 4 protein, a pattern recognition receptor that binds bacterial lipopolysaccharide (LPS) to initiate an innate immune response.


glutamine family amino acid

An L-alpha-amino acid which is L-glutamic acid or any of the essential amino acids biosynthesised from it (glutamine, proline and arginine). A closed class.


acetylcholinesterase

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


skeletal dysplasia

Any Mendelian diseases that affects growth and development of the skeleton.


skeleton

Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body.


Lithium orotate

An alkali metal hydride where the metal is specified as lithium.


cAMP-mediated signaling

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Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell.


catalytic complex

A protein complex which is capable of catalytic activity.


Clinical sepsis

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Hyperleucinemia

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

An increased concentration of leucine in the blood.


Mtor

A serine/threonine-protein kinase mTOR that is encoded in the genome of mouse.


lung epithelium

The epithelial layer of the lung.


respiratory syncytial virus infectious disease

Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children.


LIF_RAT Leukemia inhibitory factor (sprot)

A leukemia inhibitory factor that is encoded in the genome of rat.


Lung Injury

Damage to the lung from traumatic or pathologic processes.


androgen receptor

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


atherosclerosis

Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen.


glutathione S-transferase epsilon 2 sequence variant at position 114

A glutathione S-transferase epsilon 2 that has an amino acid residue that differs from the typically-observed Ile at the position equivalent to 114 of the amino acid sequence represented by UniProtKB:V9QKI4-1.


E3 ubiquitin-protein ligase RBX1

A RING-box protein 1 related protein that is a translation product of the human RBX1 gene or a 1:1 ortholog thereof.


E3 ubiquitin-protein ligase SMURF1

A smad ubiquitination regulatory factor that is a translation product of the human SMURF1 gene or a 1:1 ortholog thereof.


A serine/threonine-protein kinase PAK 2 that is encoded in the genome of human.


pancreatic acinar cell

A secretory cell found in pancreatic acini that secretes digestive enzymes and mucins. This cell is a typical zymogenic cell, have a basal nucleus and basophilic cytoplasm consisting of regular arrays of granular endoplasmic reticulum with mitochondria and dense secretory granules.


CCK

A cholecystokinin that is encoded in the genome of human.


A POU domain, class 4, transcription factor 1 that is encoded in the genome of mouse.


CDKN2A gene translation product (human)

A CDKN2A gene translation product that is encoded in the genome of human.


Adverse Event Attributed to Disease

An indication that an adverse event is causally related to the natural history of disease.


Arsenic Exposure

A finding indicating that an individual has been exposed to arsenic.


Cancer Stem Cells

A malignant cell which may derive from mutations in normal stem cells. Cancer stem cells proliferate and give rise to other malignant cells. They may be present in very small numbers in the tumor and may not be present in all tumors. Many investigators believe that cancer stem cells cause relapse of the tumor and that novel cancer therapies should specifically target those cells.


Molecular Mechanisms of Pharmacological Action


Mixed cirrhosis

A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.


CCL4_HUMAN C-C motif chemokine 4 (sprot)

A C-C motif chemokine 4 that is encoded in the genome of human.


combined hepatocellular carcinoma and cholangiocarcinoma

A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor.


Androgen Receptor-Dependent Gene Signature


melanophilin

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


PPARA

A peroxisome proliferator-activated receptor alpha that is encoded in the genome of human.


liver

An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO].


Peroxisome Proliferator Receptor alpha Agonist


non-alcoholic fatty liver disease

A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.


A centrosomal protein of 55 kDa that is encoded in the genome of human.


ovarian endometrial cancer

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


NCI CTEP SDC Ovarian Cancer (excluding Ovarian Germ Cell Cancer) Sub-Category Terminology


Gastroenteropancreatic neuroendocrine tumor disease


Pazopanib

A pyrimidine that is 5-(pyrimidin-2-yl}amino-2-methylbenzenesulfonamide substituted at position 4 by a (2,3-dimethylindazol-6-yl)(methyl)amino group. Used as its hydrochloride salt for treatment of kidney cancer.


metastatic gastrointestinal carcinoid tumor


transgelin

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


koniocellular cell

A neuron with a small cell body that is located in a koniocellular layer of the lateral geniculate nucleus (LGN).


metastasis from malignant neoplasm of lung


HT29 Cells

An adenocarcinoma cell line established from a 44 year old Caucasian female patient with colon carcinoma.


Vernal keratoconjunctivitis, with limbar and corneal involvement


Recurrent herpes simplex infection of eye


Hormone Resistance

A finding indicating decreased tissue sensitivity to a hormone.


Hepatocyte

A parenchymal liver cell.


A nucleolar MIF4G domain-containing protein 1 that is encoded in the genome of mouse.


cartilage homeostasis

A tissue homeostatic process involved in the maintenance of an internal equilibrium within cartilage, including control of cellular proliferation and death and control of metabolic function.


alginic acid metabolic process

The chemical reactions and pathways involving alginic acid, a hydrophilic polysaccharide occurring in, for example, the cell walls of brown algae (brown seaweeds).


jasmonic acid and ethylene-dependent systemic resistance

The jasmonic acid and ethylene (ethene) dependent process that confers broad spectrum systemic resistance to disease in response to wounding or a pathogen.


adenoid cystic carcinoma

A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.


CD133 Antigen Peptide-pulsed Autologous Dendritic Cell Vaccine


FASN

A fatty acid synthase that is encoded in the genome of human.


Dendritic Cells

Immunocompetent cells of the lymphoid and hemopoietic systems and skin. They function morphologically and phenotypically by presenting or processing antigens, thereby stimulating cellular immunity. They represent the most potent antigen-presenting cells and, therefore, play a critical role in the primary T cell immune response.


Therapeutic Dendritic Cells/Cytokine-induced Killer Cells

A preparation of autologous dendritic cells (DC) mixed with cytokine-induced killer (CIK) cells (DC-CIK), with potential immunopotentiating and antineoplastic activities. DCs were obtained ex vivo by incubation of peripheral blood lymphocytes (PBLs) with granulocyte-macrophage colony-stimulating factor stimulating factor (GM-CSF or CSF2), tumor necrosis factor (TNF), and interleukin (IL)-24 and were sensitized with tumor-associated antigens (TAAs). Cytokine-induced killer (CIK) cells are immune effector cells with both T-cell and natural killer (NK) cell like phenotype. CIKs are non-major histocompatibility complex (MHC)-restricted, NK-like T-lymphocytes, which express both CD3, a T-cell surface marker, and CD56, a natural killer cell surface marker, and have been generated ex vivo by incubation of peripheral blood lymphocytes (PBLs) with anti-CD3 monoclonal antibody, IL-2, IL-1 alpha, and interferon gamma (IFN-gamma) and then expanded. Upon co-culture of DCs and CIKs, and administration of DC-CIK cells into the patient, the DCs are able to stimulate the immune response to exert a specific anti-tumor immune response, while the CIK cells exert direct oncolytic activity.


Dendritic Cell Tumor Cell Lysate Vaccine


malignant cell

A neoplastic cell that is capable of entering a surrounding tissue


Sorafenib

A member of the class of phenylureas that is urea in which one of the nitrogens is substituted by a 4-chloro-3-trifluorophenyl group while the other is substituted by a phenyl group which, in turn, is substituted at the para position by a [2-(methylcarbamoyl)pyridin-4-yl]oxy group.


A metallothionein-1 that is encoded in the genome of mouse.


A metallothionein-1G that is encoded in the genome of human.


mitotic spindle assembly checkpoint protein MAD2A

A protein that is a translation product of the human MAD2L1 gene or a 1:1 ortholog thereof.


positive regulation of mitotic DNA damage checkpoint

Any process that activates or increases the frequency, rate or extent of mitotic DNA damage checkpoint.


Karyotype Status

The status of the subject's karyotype.


subclavius

The Subclavius is a small triangular muscle, placed between the clavicle and the first rib. Along with the pectoralis major and pectoralis minor muscles, the subclavius muscle makes up the anterior wall of the axilla.


alcohol

A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom.


white adipose tissue

Connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels[MP,modified].


A ribosomal protein S6 kinase alpha-1 that is encoded in the genome of mouse.


Anti-EGFRvIII CAR-transduced Allogeneic T-lymphocytes

Allogeneic human T-lymphocytes transduced with a retroviral vector encoding an anti-epidermal growth factor receptor (EGFR) variant III (EGFRvIII) mutant chimeric T cell receptor (chimeric antigen receptor or CAR) gene coupled to the signaling domains from CD8, CD28, 4-1BB (CD137) and CD3 zeta, with potential immunostimulatory and antineoplastic activities. Upon administration, the anti-EGFRvIII CAR-transduced allogeneic T lymphocytes bind to the EGFRvIII antigen on tumor cell surfaces; subsequently, EGFRvIII-expressing tumor cells may be lysed. EGFRvIII, an in-frame deletion of exons 2-7 in the EGFR gene, is overexpressed by a variety of cancer cell types and absent in normal, healthy cells; it plays a key role in tumor cell proliferation, tumor angiogenesis and radio- and chemoresistance.


matrix metalloproteinase-9

A protein that is a translation product of the human MMP9 gene or a 1:1 ortholog thereof.


EC 3.5.1.98 (histone deacetylase) inhibitor

An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the function of histone deacetylase (EC 3.5.1.98).


IL-12sc, IL-15sushi, IFNa and GM-CSF mRNA-based Immunotherapeutic Agent SAR441000


Autologous FRa-4SCAR-expressing T-cells 4SCAR-FRa

A preparation of genetically modified autologous T-cells transduced with a replication incompetent, self-inactivating lentiviral vector expressing a fourth generation chimeric antigen receptor (4SCAR) consisting of an anti-folate receptor alpha (FRa; folate receptor 1; FOLR1) single chain variable fragment (scFv) that is coupled to the costimulatory signaling domains CD28, CD137, CD27 and the zeta chain of the T-cell receptor (CD3zeta; CD3z), and is fused with the suicide gene inducible caspase 9 (iCasp9), with potential immunostimulating and antineoplastic activities. Upon administration, autologous FRa-4SCAR-expressing T-cells 4SCAR-FRa are directed to and induce selective toxicity in FRa-expressing tumor cells. iCasp9 consists of a human FK506 drug-binding domain with an F36V mutation (FKBP12-F36V) linked to human caspase 9. If the administered T-cells lead to unacceptable side effects, the chemical homodimerizer AP1903 can be administered. AP1903 binds to the drug binding FKBP12-F36V domain and induces activation of caspase 9, which results in the apoptosis of the administered T-cells and enhances safety of this agent. FRa is overexpressed in various tumor cell types, and is associated with increased leukemic cell proliferation and aggressiveness. CD28, CD137 and CD27, T-cell surface-associated co-stimulatory molecules, are required for full T-cell activation and enhance both proliferation of T-cells and antitumor activity.


alcohol-related genetic markers

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aldehyde dehydrogenase, cytosolic 1

A protein that is a translation product of the mouse Aldh1a7 gene or a 1:1 ortholog thereof.


retinoic acid receptor signaling pathway

The series of molecular signals generated as a consequence of a retinoic acid receptor binding to one of its physiological ligands.


A phosphatidylinositol 4-kinase beta that is encoded in the genome of human.


lamellipodium assembly

Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.


Transendothelial and Transepithelial Migration


A phosphatidylinositol 4-kinase type 2-beta that is encoded in the genome of human.


PHEX

A phosphate-regulating neutral endopeptidase PHEX that is encoded in the genome of human.


hypophosphatemic rickets

Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.


A protein arginine N-methyltransferase 5 that is encoded in the genome of human.


An interleukin-6 that is encoded in the genome of human.


synovitis

Inflammation of a synovial membrane.


Mucosal Infection

An acute or chronic infectious process affecting a mucosal surface.


A Ras-related protein Rab-28 that is encoded in the genome of mouse.


IFT complex

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


cilium

A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.


Ras-related protein Rab-28

A protein that is a translation product of the human RAB28 gene or a 1:1 ortholog thereof.


cilium organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.


desmin

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


VDAC1_HUMAN Voltage-dependent anion-selective channel protein 1 (sprot)

A voltage-dependent anion-selective channel protein 1 that is encoded in the genome of human.


A transcription regulator protein BACH1 that is encoded in the genome of mouse.


pulmonary fibrosis

Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).


lung

Respiration organ that develops as an outpocketing of the esophagus.


homeobox protein NANOG

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


centromere protein H

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


G2/mitotic-specific cyclin-B1

A G2/mitotic-specific cyclin-B that is a translation product of the human CCNB1 gene or a 1:1 ortholog thereof.


centromere detachment from spindle pole body involved in meiotic chromosome organization

The cell cycle process in which centromeres dissociate from the spindle pole body, contributing to the rearrangement of chromosomes into the orientation characteristic of meiotic prophase I.


meiotic spindle organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a meiotic cell cycle.


innate immune response

Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.


esophageal squamous cell carcinoma

Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.


Endoscopic biopsy

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DNA analysis of PIK3CA gene for mutation status


A serine/threonine-protein kinase Nek2 that is encoded in the genome of mouse.


hepatocellular carcinoma

A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.


A disintegrin and metalloproteinase domain-containing protein 12 that is encoded in the genome of human.


ERBB signaling pathway

The series of molecular signals initiated by binding of a ligand to a member of the ERBB family of receptor tyrosine kinases on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.


A krueppel-like factor 10 that is encoded in the genome of human.


PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome), full gene analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, mobile element insertions, and variants in non-uniquely mappable regions


familial colorectal cancer

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


Pituitary Tumor Transforming Gene Overexpression


wound healing, spreading of cells

The migration of a cell along or through a wound gap that contributes to the reestablishment of a continuous surface.


Wnt beta-Catenin Signaling Pathway

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Anti-Senl-h19 CAR T Cells

A preparation of T-lymphocytes that have been genetically modified to express a chimeric antigen receptor (CAR) targeting the human tumor-associated antigen (TAA) CD19, with potential immunostimulating and antineoplastic activities. Upon administration, anti-Senl-h19 CAR T cells target and bind to CD19-expressing tumor cells, thereby inducing selective toxicity in CD19-expressing tumor cells. CD19 antigen is a B-cell specific cell surface antigen expressed in all B-cell lineage malignancies.


Hypoxia, CTCAE

A disorder characterized by a decrease in the level of oxygen in the body.


An IGF-like family receptor 1 that is encoded in the genome of human.


contrast-induced nephropathy

Kidney damage resulting from exposure to contrast agents.


A protein that is a translation product of the Hsp27 gene in fruit fly.


fatty acid

Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. By extension, the term is sometimes used to embrace all acyclic aliphatic carboxylic acids.


A serine/threonine-protein kinase STK11 that is encoded in the genome of human.


A transcription factor Sp1 that is encoded in the genome of human.


MYC

A c-myc protein that is encoded in the genome of human.


Lymphocyte transformation, spontaneous blastogenesis


B cell

A lymphocyte of B lineage that is capable of B cell mediated immunity.


phosphatidylinositol-mediated signaling

The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.


MYC Positive

Indicates that MYC expression has been detected in a sample.


LIFR

A leukemia inhibitory factor receptor that is encoded in the genome of human.


uterine epithelium

An epithelium that is part of a uterus.


Amenorrhea due to congenital gonadotrophin releasing hormone deficiency


protein S100-A7

A protein that is a translation product of the human S100A7 gene or a 1:1 ortholog thereof.


pancreatic neoplasm

A benign or malignant neoplasm involving the pancreas.


calcium ion import

The directed movement of calcium ions into a cell or organelle.


brain injury

Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.


hereditary sensory neuropathy-deafness-dementia syndrome

A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.


maintenance of blood-brain barrier

Maintaining the structure and function of the blood-brain barrier, thus ensuring specific regulated transport of substances (e.g. macromolecules, small molecules, ions) into the brain, and out of the brain into the blood circulation.


endothelium

A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA].


A protein that is a translation product of the At1g78860 gene in Arabidopsis thaliana.


Ras-related C3 botulinum toxin substrate 1

A protein that is a translation product of the human RAC1 gene or a 1:1 ortholog thereof.


non-canonical NF-kappaB signal transduction

The process in which a signal is passed on to downstream components within the cell through the NIK-dependent processing and activation of NF-kappaB. Begins with activation of the NF-kappaB-inducing kinase (NIK), which in turn phosphorylates and activates IkappaB kinase alpha (IKKalpha). IKKalpha phosphorylates the NF-kappa B2 protein (p100) leading to p100 processing and release of an active NF-kappaB (p52). The non-canonical NF-kappaB signaling pathway is generally activated by ligands of the TNF receptor superfamily, including lymphotoxin beta (LTB), CD40, OX40, RANK, TWEAK and B cell-activating factor (BAFF).


acute lung injury

A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).


A protein that is a translation product of the human CAV1 gene or a 1:1 ortholog thereof.


A BMP receptor-regulated smad protein that is a translation product of the human SMAD1 gene or a 1:1 ortholog thereof.


serine/threonine-protein kinase Haspin homolog ALK2

A protein that is a translation product of the yeast ALK2 gene or a 1:1 ortholog thereof.


pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure >20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).


A ubiquitin carboxyl-terminal hydrolase isozyme L1 that is encoded in the genome of human.


Childhood Gliosarcoma

A gliosarcoma that occurs during childhood.


The removal of the ubiquitin group from a monoubiquitinated protein.


Wnt receptor activity

Combining with a Wnt protein and transmitting the signal across the plasma membrane to initiate a change in cell activity.


GCGR

A glucagon receptor that is encoded in the genome of human.


Lenomorelina

A 28-membered appetite-stimulating polypeptide consisting of Gly, Ser, Ser(octanoyl), Phe, Leu, Ser, Pro, Glu, His, Gln, Arg, Val, Gln, Gln, Arg, Lys, Glu, Ser, Lys, Lys, Pro, Pro, Ala, Lys, Leu, Gln, Pro and Arg residues joined in sequence. The O-n-octanoylation of the side-chain hydroxy group of serine-3 (Ser3) is essential for ghrelin's activity.


hypoglycemia

Abnormally low level of glucose in the blood.


Growth Hormone-Releasing Hormone Analogue


erysipelas

An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch.


inborn disorder of energy metabolism

An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.


A protein that is a translation product of the Escherichia coli K-12 ogt gene or a 1:1 ortholog thereof.


mRNA splicing, via endonucleolytic cleavage and ligation

Splicing of mRNA substrates via recognition of the folded RNA structure that brings the 5' and 3' splice sites into proximity and cleavage of the RNA at both the 3' and 5' splice sites by an endonucleolytic mechanism, followed by ligation of the exons.


glycosylation

biolink:Phenomenon biolink:NamedThing biolink:Occurrent biolink:PhysicalEssenceOrOccurrent


The chemical reactions and pathways involving UDP-N-acetylglucosamine, a substance composed of N-acetylglucosamine, a common structural unit of oligosaccharides, in glycosidic linkage with uridine diphosphate.


Endosomal Sorting Complex Required for Transport III


membrane fission

A process that is carried out at the cellular level which results in the separation of a single continuous membrane into two membranes.


A protein that is a translation product of the vps4 gene in Dictyostelium discoideum.


charged multivesicular body protein 2b

A protein that is a translation product of the human CHMP2B gene or a 1:1 ortholog thereof.


Asparaginuria

An increased concentration of asparagine in the urine.


Leukemic Hematopoietic Stem Cell

A malignant hematopoietic cell which may derive from mutations in normal hematopoietic stem cells. Leukemic hematopoietic stem cells can initiate or sustain neoplastic hematopoietic diseases because they are able to both proliferate and give rise to other malignant cells.


acute lymphoblastic leukemia

Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.


metastasis from malignant neoplasm of liver


angiotensin-activated signaling pathway

A G protein-coupled receptor signaling pathway initiated by angiotensin II binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.


transforming growth factor beta1 production

The appearance of transforming growth factor-beta1 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.


PTEN phosphatase complex

A phospholipid phosphatase complex that catalyses the hydrolysis of the second messenger PtdIns (3,4,5)P3. Will also dephosphorylate PtdIns(3,4)P2, PtdIns3P, and Ins(1,3,4,5)P4. Dimerization is critical for its lipid phosphatase function.


protein complex oligomerization

The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.


gestational diabetes mellitus, White's classification


Gestational diabetes mellitus in pregnancy, unspecified control


Metabolic interaction analysis each test


beta thalassemia

Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).


Hemoglobin Alpha Three Copies Deleted Genotype

A genetic finding indicating that one copy of chromosome 16 has only one functional copy of a hemoglobin alpha (HBA) gene and the other copy of has no functional HBA genes. This genotype is associated with hemoglobin H disease.


protein bicaudal D homolog 1 isoform 4

A protein bicaudal D homolog 1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96G01-4 or a 1:1 ortholog thereof.


type IV pilus-dependent motility

Any process involved in the controlled movement of a bacterial cell which is dependent on the presence of type IV pili. Includes social gliding motility and twitching motility.


spinal muscular atrophy

Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.


Nephrotic Syndrome - PTPRO Associated

Nephrotic syndrome attributed to mutation(s) in the PTPRO gene.


Podocytes

A modified epithelial cell of the capsular epithelium of the renal glomerulus. It has a small perikaryon and a number of primary and secondary foot-like radiating processes (pedicels) that interdigitate with those of other podocytes and embrace the basal lamina of glomerular capillaries.


podocyte differentiation

The process in which a relatively unspecialized cell acquires specialized features of a glomerular visceral epithelial cell. A glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells.


An arginase-1 that is encoded in the genome of human.


Airway hyperresponsiveness

An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.


interleukin-10, signal peptide removed form

An interleukin-10 that has had the signal peptide removed.


V-set and immunoglobulin domain-containing protein 4, signal peptide removed form

A V-set and immunoglobulin domain-containing protein 4 that has had the signal peptide removed.


histopathology test for the respiratory system


Extracellular Matrix

The extracellular matrix is a network of fibers that hold cells together. It is found within the extracellular space and in association with the basement membrane of the cell surface. It promotes cellular proliferation and provides a supporting structure to which cells or cell lysates in culture dishes adhere. It is broken down during normal physiological and disease processes such as bone remodeling, embryogenesis, cancer, and arthritis.


TIRAP-dependent toll-like receptor 4 signaling pathway

The series of molecular signals initiated by a ligand binding to a toll-like receptor 4 where the TIRAP/MAL adaptor mediates transduction of the signal. Toll-like 4 receptors are pattern recognition receptors that bind bacterial lipopolysaccharide (LPS) to initiate an innate immune response.


A C-C chemokine receptor type 7 that is encoded in the genome of mouse.


osteoarthritis, knee

Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)


osteoarthritis

A noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.


Joint Involvement

A finding indicating the spread of cancer to a joint.


nociceptor nerve ending

A peripheral terminal of a peripheral, afferent sensory pain receptor cell that is sensitive to injury or pain, usually caused by extreme thermal exposures, mechanical forces, or other noxious stimuli. The nociceptor nerve ending innervates target tissue and transduces noxious stimuli to the central nervous system via some axon(s).


A Toll-like receptor 2 that is encoded in the genome of mouse.


Structure of lateral patellar retinaculum


Arthroscopic trimming of medial meniscus


clustering of voltage-gated sodium channels

The process in which voltage-gated sodium channels become localized together in high densities. In animals, nodes of Ranvier differ dramatically from internodal axonal regions in very high densities of voltage-dependent sodium (Nav) channels responsible for the rapid, inward ionic currents that produce membrane depolarization.


immune response-regulating signaling pathway

The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to the activation, perpetuation, or inhibition of an immune response.


osteoarthritis susceptibility 1

Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene.


A developmentally-regulated GTP-binding protein 1 that is encoded in the genome of mouse.


Chronic musculoskeletal pain due to persistent inflammation


immune cell activation during inflammatory response


A transient receptor potential cation channel TRPV1 that is encoded in the genome of rat.


dorsal horn interneuron

A CNS interneuron located in the dorsal horn of the spinal cord.


Leukotriene B4

A leukotriene composed of (6Z,8E,10E,14Z)-icosatetraenoic acid having (5S)- and (12R)-hydroxy substituents. It is a lipid mediator of inflammation that is generated from arachidonic acid via the 5-lipoxygenase pathway.


prurigo

A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)


Neural Pathways

The route in which a nerve impulse travels through a series of linked axons to connect different regions within the central nervous system or to convey information from the peripheral nervous system to the brain.


neurological pain disorder

A nervous system disorder that has pain as a major feature.


chronic pain syndrome

Chronic form of disorder involving pain.


An anthrax toxin receptor 2 that is encoded in the genome of human.


sensory neuron of dorsal root ganglion

A sensory neuron of the dorsal root ganglia that senses body position and sends information about how much the muscle is stretched to the spinal cord.


genetic disorder detection by whole transcriptome and NGS for tissue-specific gene expression


Spontaneous cortical electrical activity


Neurodevelopmental Disabilities - Psychiatry & Neurology - Physicians

biolink:Cohort biolink:StudyPopulation biolink:PopulationOfIndividualOrganisms biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:SubjectOfInvestigation biolink:ThingWithTaxon


Chronic painful neuropathy due to diabetes mellitus


macrophage

A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells.


Chronic pain

Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.


Inflammation of specific body structures or tissue


Neuropathic spinal arthropathy

A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.


Cannabidiol

An cannabinoid that is cyclohexene which is substituted by a methyl group at position 1, a 2,6-dihydroxy-4-pentylphenyl group at position 3, and a prop-1-en-2-yl group at position 4.


Asian American Native Hawaiian and Pacific Islander


sexually active with varying new partners and unconcerned


lateral division of parvicellular subparafascicular nucleus


plasminogen activation

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

The process in which inactive plasminogen is processed to active plasmin. This process includes cleavage at an internal Arg-Val site to form an N-terminal A-chain and C-terminal B-chain held together by a disulfide bond, and can include further proteolytic cleavage events to remove the preactivation peptide.


Irritability

A proneness to anger, i.e., a tendency to become easily bothered or annoyed.


LUMBAR-SACRAL ORTHOSIS, SAGITTAL-CORONAL CONTROL, LUMBAR FLEXION, RIGID POSTERIOR FRAME/PANEL(S), LATERAL ARTICULATING DESIGN TO FLEX THE LUMBAR SPINE, POSTERIOR EXTENDS FROM SACROCOCCYGEAL JUNCTION TO T-9 VERTEBRA, LATERAL STRENGTH PROVIDED BY RIGID LATERAL FRAME/PANEL(S), PRODUCES INTRACAVITARY PRESSURE TO REDUCE LOAD ON INTERVERTEBRAL DISCS, INCLUDES STRAPS, CLOSURES, MAY INCLUDE PADDING, ANTERIOR PANEL, PENDULOUS ABDOMEN DESIGN, PREFABRICATED, INCLUDES FITTING AND ADJUSTMENT (procedure)


Declarative memory loss

Impaired ability to remember facts and events.


Sleep abnormality

An abnormal pattern in the quality, quantity, or characteristics of sleep.


DAGLB

A diacylglycerol lipase-beta that is encoded in the genome of human.


over-the-counter medication use disorder


statin

Any organooxygen compound whose structure is related to compactin (mevastatin) and which may be used as an anticholesteremic drug due its EC 1.1.1.34/EC 1.1.1.88 (hydroxymethylglutaryl-CoA reductase) inhibitory properties.


paclitaxel biosynthetic process

The chemical reactions and pathways resulting in the formation of paclitaxel, a tetracyclic diterpenoid isolated originally from the bark of the Pacific yew tree, Taxus brevifolia.


opioid analgesic

A narcotic or opioid substance, synthetic or semisynthetic agent producing profound analgesia, drowsiness, and changes in mood.


buprenorphine hydrochloride + naloxone hydrochloride


proteinase-activated receptor 2

A proteinase-activated receptor that is a translation product of the human F2RL1 gene or a 1:1 ortholog thereof. It is activated by trypsin and trypsin-like proteinases, which cleave the mature peptide, exposing a new amino end. The six new N-terminal residues act as a tethered ligand that induces activity.


mast cell degranulation

The regulated exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell.


meningeal branch of spinal nerve

Branch of spinal nerve that innervates the structures of the vertebral column.


trigeminal nerve fibers

A nerve fiber that is part of a trigeminal nerve.


chiropractic manipulative treatment (CMT) of spine


Modular arrangement of predetermined time standards score


A delta-type opioid receptor that is encoded in the genome of mouse.


Bdnf

A brain-derived neurotrophic factor that is encoded in the genome of mouse.


A voltage-gated potassium channel KCNG2 that is encoded in the genome of human.


Hydrocodone

A morphinane-like compound that is a semi-synthetic opioid synthesized from codeine.


Prescription of drug within scope of practice


hemisphere part of cerebellar anterior lobe

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

A multi-tissue structure that is part of a anterior lobe of cerebellum and is part of a cerebellar hemisphere.


pallidum

Part of what are called the basal ganglia of the brain which consist of the globus pallidus and the ventral pallidum.


neonatal abstinence syndrome

A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.


Magnesium Chloride

A magnesium salt comprising of two chlorine atoms bound to a magnesium atom.


Postoperative administration of analgesia


L-phenylalanine derivative

A proteinogenic amino acid derivative resulting from reaction of L-phenylalanine  at the amino group or the carboxy group, or from the replacement of any hydrogen of L-phenylalanine  by a heteroatom.


Oxycodone

A semisynthetic opioid of formula C18H21NO4 that is derived from thebaine.  It is a moderately potent opioid analgesic, generally used for relief of moderate to severe pain.


office-based treatment for opioid use disorder, 70+ minutes in first calendar month


infective endocarditis

Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.


dura mater

Thick, fibrous meningeal covering surrounding the brain and spinal cord. It is the outermost of the three meningeal coverings. It consists of two layers: the periosteal dura linking the inner surface of the skull and the meningeal dura that lies above the arachnoid dural membrane. The meningeal layer draws away from the periosteal layer and certain locations to form the dural reflections.


Implementation of alternative methods of pain control


Network Hubs

biolink:PhysicalEntity biolink:NamedThing biolink:PhysicalEssence biolink:PhysicalEssenceOrOccurrent


Adults currently taking pharmacotherapy for oud


Shared Commitment

biolink:Behavior biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:OntologyClass biolink:ActivityAndBehavior biolink:Occurrent biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent


Fetal brain

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


medication assisted treatment for substance abuse


opioid use with opioid-induced psychotic disorder


brain

The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP].


substance abuse

The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed.


Naltrexone

An  organic heteropentacyclic compound that is naloxone substituted in which the allyl group attached to the nitrogen is replaced by a cyclopropylmethyl group. A mu-opioid receptor antagonist, it is used to treat alcohol dependence.


Revision of knee replacement, total (all components)


Hypertension, abnormal renal/liver function, stroke, bleeding history or predisposition, labile international normalized ratio, elderly over 65, and drugs/alcohol concomitantly score


temporomandibular joint dysfunction syndrome

A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disk and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management.


dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities


Communication and information assistive device


neural control

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


No Palliative Benefit

An indication that the treatment for a patient is not relieving symptoms or providing comfort.


Black, not of hispanic origin

biolink:PopulationOfIndividualOrganisms biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:SubjectOfInvestigation biolink:ThingWithTaxon


mu-type opioid receptor

An opioid receptor protein that is a translation product of the human OPRM1 gene or a 1:1 ortholog thereof. The preferred ligands are beta-endorphin and enkephalins.


Pet imaging, any site, not otherwise specified


central nervous system

The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord.


peripheral nervous system

A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands.


delta-type opioid receptor

An opioid receptor protein that is a translation product of the human OPRD1 gene or a 1:1 ortholog thereof. The preferred ligands are enkephalins.


Patient Readmission

biolink:Activity biolink:NamedThing biolink:ActivityAndBehavior biolink:Occurrent biolink:PhysicalEssenceOrOccurrent


Malignant hepatobiliary neoplasms

A malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder.  Representative examples include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.


opioid abuse

A substance abuse that involves the recurring use of opioid drugs despite negative consequences.


Vision electrophysiology analysis system


capsaicinoid

A family of aromatic fatty amides produced as secondary metabolites by chilli peppers.


Pimavanserin

A member of the class of ureas in which three of the four hydrogens are replaced by 4-fluorobenzyl, 1-methylpiperidin-4-yl, and 4-(isopropyloxy)benzyl groups. An atypical antipsychotic that is used (in the form of its tartrate salt) for treatment of hallucinations and delusions associated with Parkinson's disease.


Lorcaserin

A benzazepine that is 2,3,4,5-tetrahydro-3-benzazepine substituted at position 1 by a methyl group and a t position 6 by a chloro group.


Cocaine use, unspecified with unspecified cocaine-induced disorder


biolink:ClinicalAttribute biolink:Attribute biolink:NamedThing biolink:OntologyClass


A proteinase-activated receptor 2 that is encoded in the genome of mouse.


Afferent neuron

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

An afferent neuron that converts environmental stimuli into electrical impulses that are transmitted to the central nervous system.


Hyperesthesia dolorosa

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


positive regulation of proteinase activated receptor activity

Any process that activates or increases the frequency, rate or extent of proteinase activated receptor activity.


acetaminophen and oxycodone hydrochloride


Developmental age

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


preventive medicine services clinical trial


Breast care education individual each 15 minutes


percutaneous fixation of supracondylar humeral fracture


Functional Connectivity Magnetic Resonance Imaging


Resting Functional Magnetic Resonance Imaging


Homeopathic remedy preparation training individual each 15 minutes


Abnormal brain morphology

A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.


Education about safe disposal of medication


Coronaviridae infectious disease

Virus diseases caused by coronaviridae.