signaling

definition: The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered.


regulation of macroautophagy

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

definition: Any process that modulates the frequency, rate or extent of macroautophagy.


autophagosome maturation

definition: Removal of PI3P and Atg8/LC3 after the closure of the phagophore and before the fusion with the endosome/lysosome (e.g. mammals and insects) or vacuole (yeast), and that very likely destabilizes other Atg proteins and thus enables their efficient dissociation and recycling.


DNA strand displacement

definition: The rejection of the broken 3' single-strand DNA molecule that formed heteroduplex DNA with its complement in an intact duplex DNA. The Watson-Crick base pairing in the original duplex is restored. The rejected 3' single-strand DNA molecule reanneals with its original complement to reform two intact duplex molecules.


DNA synthesis involved in DNA repair

definition: Synthesis of DNA that proceeds from the broken 3' single-strand DNA end and uses the homologous intact duplex as the template.


DNA double-strand break processing

definition: The 5' to 3' exonucleolytic resection of the DNA at the site of the break to form a 3' single-strand DNA overhang.


DNA ligation

definition: The re-formation of a broken phosphodiester bond in the DNA backbone, carried out by DNA ligase.


telomere capping

definition: A process in which telomeres are protected from degradation and fusion, thereby ensuring chromosome stability by protecting the ends from both degradation and from being recognized as damaged DNA. May be mediated by specific single- or double-stranded telomeric DNA binding proteins.


name: positive regulation of protein localization to nucleus

definition: Any process that activates or increases the frequency, rate or extent of protein localization to nucleus.


name: ubiquitin-dependent protein catabolic process

definition: The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein.


name: negative regulation of ERBB signaling pathway

definition: Any process that stops, prevents or reduces the frequency, rate or extent of ERBB signaling pathway.


opsonization

definition: The process in which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody.


acetylcholine catabolic process

definition: The chemical reactions and pathways resulting in the breakdown of acetylcholine, the acetic acid ester of the organic base choline.


name: glycolytic process through glucose-6-phosphate

definition: The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, occurring through a glucose-6-phosphate intermediate, with the concomitant production of a small amount of ATP.


glucosamine catabolic process

definition: The chemical reactions and pathways resulting in the breakdown of glucosamine (2-amino-2-deoxyglucopyranose), an aminodeoxysugar that occurs in combined form in chitin.


glucose 6-phosphate metabolic process

definition: The chemical reactions and pathways involving glucose 6-phosphate, a monophosphorylated derivative of glucose with the phosphate group attached to C-6.


name: positive regulation of amino acid metabolic process

definition: Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amino acid.


name: negative regulation of cellular amino acid metabolic process

definition: Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amino acid.


branched-chain amino acid transport

definition: The directed movement of branched-chain amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Branched-chain amino acids are amino acids with a branched carbon skeleton without rings.


name: positive regulation of Notch signaling pathway

definition: Any process that activates or increases the frequency, rate or extent of the Notch signaling pathway.


name: Notch receptor processing, ligand-dependent

definition: The proteolytic cleavages to the Notch protein that occur as a result of ligand binding. Ligand binding at the cell surface exposes an otherwise inaccessible cleavage site in the extracellular portion of Notch, which when cleaved releases a membrane-tethered form of the Notch intracellular domain. Subsequent cleavage within the transmembrane domain then leads to the release of the soluble Notch intracellular domain (NICD).


positive regulation of gene expression

definition: Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).


name: miRNA-mediated gene silencing by inhibition of translation

definition: An RNA interference pathway in which microRNAs (miRNAs) block the translation of target mRNAs into proteins. Once incorporated into a RNA-induced silencing complex (RISC), a miRNA will typically mediate repression of translation if the miRNA imperfectly base-pairs with the 3' untranslated regions of target mRNAs.


name: negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

definition: Any process that stops, prevents, or reduces the frequency, rate or extent of phosphatidylinositol 3-kinase/protein kinase B signal transduction.


receptor internalization

definition: A receptor-mediated endocytosis process that results in the movement of receptors from the plasma membrane to the inside of the cell. The process begins when cell surface receptors are monoubiquitinated following ligand-induced activation. Receptors are subsequently taken up into endocytic vesicles from where they are either targeted to the lysosome or vacuole for degradation or recycled back to the plasma membrane.


name: negative regulation of canonical NF-kappaB signal transduction

definition: Any process that stops, prevents, or reduces the frequency, rate or extent of a canonical NF-kappaB signaling cascade.


name: negative regulation of neurotrophin TRK receptor signaling pathway

definition: Any process that stops, prevents, or reduces the frequency, rate or extent of the neurotrophin TRK receptor signaling pathway.


activation of protein kinase B activity

definition: Any process that initiates the activity of the inactive enzyme protein kinase B.


name: negative regulation of G1/S transition of mitotic cell cycle

definition: Any signaling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle.


name: positive regulation of protein export from nucleus

definition: Any process that activates or increases the frequency, rate or extent of directed movement of proteins from the nucleus into the cytoplasm.


nuclear export

definition: The directed movement of substances out of the nucleus.


name: regulation of canonical NF-kappaB signal transduction

definition: Any process that modulates the canonical NF-kappaB signaling cascade.


free ubiquitin chain polymerization

definition: The process of creating free ubiquitin chains, compounds composed of a large number of ubiquitin monomers. These chains are not conjugated to a protein.


name: negative regulation of MyD88-independent toll-like receptor signaling pathway

definition: Any process that stops, prevents, or reduces the frequency, rate, or extent of MyD88-independent toll-like receptor signaling pathway.


name: negative regulation of programmed necrotic cell death

definition: Any process that decreases the frequency, rate or extent of programmed necrotic cell death.


name: negative regulation of extrinsic apoptotic signaling pathway via death domain receptors

definition: Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway via death domain receptors.


name: protein insertion into mitochondrial membrane

definition: The process that results in the incorporation of a protein into a mitochondrial membrane.


name: SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

definition: The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by an SCF (Skp1/Cul1/F-box protein) complex, and mediated by the proteasome.


SCF complex assembly

definition: The aggregation, arrangement and bonding together of a set of components to form the SKP1-Cullin/Cdc53-F-box protein ubiquitin ligase (SCF) complex.


name: negative regulation of G2/M transition of mitotic cell cycle

definition: Any signaling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to M phase of the mitotic cell cycle.


positive regulation of cell migration

definition: Any process that activates or increases the frequency, rate or extent of cell migration.


name: negative regulation of microtubule binding

definition: Any process that stops, prevents or reduces the frequency, rate or extent of microtubule binding.


protein stabilization

definition: Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.


name: regulation of canonical Wnt signaling pathway

definition: Any process that modulates the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.


name: beta-catenin destruction complex assembly

definition: The aggregation, arrangement and bonding together of a set of components to form a beta-catenin destruction complex.


name: nucleotide-excision repair, preincision complex assembly

definition: The aggregation, arrangement and bonding together of proteins on DNA to form the multiprotein complex involved in damage recognition, DNA helix unwinding, and endonucleolytic cleavage at the site of DNA damage. This assembly occurs before the phosphodiester backbone of the damaged strand is cleaved 3' and 5' of the site of DNA damage.


name: nucleotide-excision repair, DNA duplex unwinding

definition: The unwinding, or local denaturation, of the DNA duplex to create a bubble around the site of the DNA damage.


name: nucleotide-excision repair, preincision complex stabilization

definition: The stabilization of the multiprotein complex involved in damage recognition, DNA helix unwinding, and endonucleolytic cleavage at the site of DNA damage as well as the unwound DNA. The stabilization of the protein-DNA complex ensures proper positioning of the preincision complex before the phosphodiester backbone of the damaged strand is cleaved 3' and 5' of the site of DNA damage.


norepinephrine catabolic process

definition: The chemical reactions and pathways resulting in the breakdown of norepinephrine, a hormone secreted by the adrenal medulla, and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts in the central nervous system. It is also the demethylated biosynthetic precursor of epinephrine.


hydroxyproline transport

definition: The directed movement of hydroxyproline into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


glyoxylate metabolic process

definition: The chemical reactions and pathways involving glyoxylate, the anion of glyoxylic acid, HOC-COOH.


monocarboxylic acid transport

definition: The directed movement of monocarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


carboxylic acid transport

definition: The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-).


sulfate transport

definition: The directed movement of sulfate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


name: 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process

definition: The chemical reactions and pathways resulting in the formation of 3'-phosphoadenosine 5'-phosphosulfate, a naturally occurring mixed anhydride. It is an intermediate in the formation of a variety of sulfo compounds in biological systems.


deoxyribonucleotide catabolic process

definition: The chemical reactions and pathways resulting in the breakdown of a deoxyribonucleotide, a compound consisting of deoxyribonucleoside (a base linked to a deoxyribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.


name: mannose trimming involved in glycoprotein ERAD pathway

definition: The removal of one or more alpha 1,2-linked mannose residues from a mannosylated protein that occurs as part of glycoprotein ER-associated glycoprotein degradation (gpERAD).


trimming of first mannose on A branch

definition: The removal of the first alpha-1,2-linked mannose from the A-chain of a glycoprotein oligosaccharide in the endoplasmic reticulum.


trimming of second mannose on A branch

definition: The removal of the second alpha-1,2-linked mannose from the A-chain of a glycoprotein oligosaccharide in the endoplasmic reticulum.


name: trimming of terminal mannose on C branch

definition: The removal of an alpha-1,2-linked mannose from the C-chain of a glycoprotein oligosaccharide in the endoplasmic reticulum.


name: trimming of terminal mannose on B branch

definition: The removal of an alpha-1,2-linked mannose from the B-chain of a glycoprotein oligosaccharide in the endoplasmic reticulum.


name: 5'-adenylyl sulfate transmembrane transport

definition: The process in which 5'-adenylyl sulfate is transported across a membrane.


endocytosis

definition: A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a part of the plasma membrane to form a new membrane-bounded vesicle.


name: heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

definition: The chemical reactions and pathways resulting in the formation of polysaccharide chain component of heparan sulfate proteoglycan.


name: heparan sulfate proteoglycan biosynthetic process, enzymatic modification

definition: The modification, often by sulfation, of sugars incorporated into heparan sulfate after polymerization.


glucose-6-phosphate transport

definition: The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6.


name: positive regulation of glycolytic process

definition: Any process that activates or increases the frequency, rate or extent of glycolysis.


name: negative regulation of glycolytic process

definition: Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis.


name: carbohydrate derivative catabolic process

definition: The chemical reactions and pathways resulting in the breakdown of carbohydrate derivative.


glycerol biosynthetic process

definition: The chemical reactions and pathways resulting in the formation of glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids.


name: methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione

definition: The chemical reactions and pathways resulting in the breakdown of methylglyoxal, CH3-CO-CHO, into D-lactate via the intermediate S-lactoyl-glutathione. Glutathione is used in the first step of the pathway and then regenerated in the second step.


acyl-CoA metabolic process

definition: The chemical reactions and pathways involving acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in thiolester linkage with an acyl group.


L-proline import across plasma membrane

definition: The directed movement of L-proline from outside of a cell, across the plasma membrane and into the cytosol.


name: L-alpha-amino acid transmembrane transport

definition: The directed movement of L-alpha-amino acid across a membrane by means of some agent such as a transporter or a pore.


carnitine transmembrane transport

definition: The directed movement of carnitine across a membrane.


carnitine transport

definition: The directed movement of carnitine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carnitine is a compound that participates in the transfer of acyl groups across the inner mitochondrial membrane.


name: mitochondrial electron transport, NADH to ubiquinone

definition: The transfer of electrons from NADH to ubiquinone that occurs during oxidative phosphorylation.


name: mitochondrial electron transport, cytochrome c to oxygen

definition: The transfer of electrons from cytochrome c to oxygen that occurs during oxidative phosphorylation, mediated by the multisubunit enzyme known as complex IV.


name: mitochondrial electron transport, ubiquinol to cytochrome c

definition: The transfer of electrons from ubiquinol to cytochrome c that occurs during oxidative phosphorylation, mediated by the multisubunit enzyme known as complex III.


name: mitochondrial electron transport, succinate to ubiquinone

definition: The transfer of electrons from succinate to ubiquinone that occurs during oxidative phosphorylation, mediated by the multisubunit enzyme known as complex II.


bilirubin conjugation

definition: The chemical reactions and pathways resulting in the formation of bilirubin monoglucuronide or bilirubin diglucuronide, water-soluble derivatives of bilirubin.


name: protein insertion into mitochondrial inner membrane

definition: The processes mediating the insertion of proteins into the mitochondrial inner membrane. Mitochondrial inner membrane proteins can get inserted from the cytosol, by crossing the outer membrane and being guided by an inner membrane translocase complex into their final destination in the inner membrane. Some proteins present in the intermembrane space can get inserted into the inner mitochondrial membrane. Finally, some proteins are inserted into the inner membrane from the matrix side of the membrane.


chaperone-mediated protein folding

definition: The process of inhibiting aggregation and assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure that is dependent on interaction with a chaperone.


histamine biosynthetic process

definition: The chemical reactions and pathways resulting in the formation of histamine, a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans.


L-tryptophan transmembrane transport

definition: The directed movement of L-tryptophan across a membrane.


L-cysteine catabolic process

definition: The chemical reactions and pathways resulting in the breakdown of L-cysteine, the L-enantiomer of 2-amino-3-mercaptopropanoic acid, i.e. (2R)-2-amino-3-mercaptopropanoic acid.


ATP biosynthetic process

definition: The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.


RNA export from nucleus

definition: The directed movement of RNA from the nucleus to the cytoplasm.


name: symbiont-mediated perturbation of host ubiquitin-like protein modification

definition: A process by which a symbiont alters ubiquitin-like protein modification of target proteins of either host or symbiont proteins. This includes ubiquitination, SUMOylation, NEDDylation, and ISG15ylation. The ubiquitination status of a protein  affects whether it is targeted to the proteasome for degradation. The host is defined as the larger of the organisms involved in a symbiotic interaction.


phagosome acidification

definition: Any process that reduces the pH of the phagosome, measured by the concentration of the hydrogen ion.


peptidyl-cysteine S-nitrosylation

definition: The covalent addition of a nitric oxide (NO) group to the sulphur (S) atom of a cysteine residue in a protein, to form peptidyl-S-nitrosyl-L-cysteine.


siderophore transport

definition: The directed movement of siderophores, low molecular weight Fe(III)-chelating substances, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


name: transport of viral material towards nucleus

definition: The directed movement of a virus, or part of a virus, towards the host cell nucleus. The process begins after viral entry, and ends when the viral material is at the nuclear membrane.


name: vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane

definition: The joining of the lipid bilayer membrane around a vesicle to the lipid bilayer membrane of the ERGIC. This can involve anterograde or retrograde transport vesicles.


viral exocytosis

definition: The exit of a fully formed virion particles from the host cell by exocytosis via a host vesicle.


virion attachment to host cell

definition: The process by which a virion protein binds to molecules on the host cellular surface or host cell surface projection.


viral budding from plasma membrane

definition: A viral budding that starts with formation of a curvature in the host plasma membrane around which the virion particle assembles.


negative regulation of gene expression

definition: Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).


name: positive regulation of DNA-templated transcription

definition: Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.


name: negative regulation of transcription initiation by RNA polymerase II

definition: Any process that decreases the rate, frequency or extent of a process involved in starting transcription from an RNA polymerase II promoter.


name: negative regulation of primary miRNA processing

definition: Any process that stops, prevents or reduces the frequency, rate or extent of primary microRNA processing.


name: positive regulation of BMP signaling pathway

definition: Any process that activates or increases the frequency, rate or extent of BMP signaling pathway activity.


name: negative regulation of BMP signaling pathway

definition: Any process that stops, prevents, or reduces the frequency, rate or extent of the BMP signaling pathway.


name: sequestering of BMP from receptor via BMP binding

definition: Binding to a bone morphogenetic protein (BMP) in the extracellular region, and inhibiting BMP signaling by preventing BMP from binding to its cell surface receptor.


name: negative regulation of platelet-derived growth factor receptor-beta signaling pathway

definition: Any process that stops, prevents or reduces the frequency, rate or extent of platelet-derived growth factor receptor-beta signaling pathway.


import into nucleus

definition: The directed movement of substances into the nucleus.


chromatin remodeling

definition: A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.


name: dopamine uptake involved in synaptic transmission

definition: The directed movement of dopamine into a presynaptic neuron or glial cell. In this context, dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline.


zinc ion import into Golgi lumen

definition: The directed import of zinc(2+) from the cytosol across the Golgi membrane into the Golgi lumen.


name: regulation of glucose transmembrane transport

definition: Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


ethylene metabolic process

definition: The chemical reactions and pathways involving ethylene (C2-H4, ethene), a simple hydrocarbon gas that can function in plants as a growth regulator.


name: negative regulation of netrin-activated signaling pathway

definition: Any process that stops, prevents or reduces the frequency, rate or extent of netrin-activated signaling pathway.


name: negative regulation of blood coagulation, intrinsic pathway

definition: Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation, intrinsic pathway.


name: negative regulation of blood coagulation, extrinsic pathway

definition: Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation, extrinsic pathway.


peptidyl-tyrosine sulfation

definition: The sulfation of peptidyl-tyrosine residues to form peptidyl-O4'-sulfo-L-tyrosine.


peptidyl-arginine hydroxylation

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


peptidyl-proline hydroxylation

definition: The hydroxylation of peptidyl-proline to form peptidyl-hydroxyproline.


peptidyl-histidine hydroxylation

definition: The hydroxylation of peptidyl-histidine to form peptidyl-hydroxyhistidine.


peptidyl-lysine hydroxylation

definition: The hydroxylation of peptidyl-lysine to form peptidyl-hydroxylysine.


peptidyl-aspartic acid hydroxylation

definition: The hydroxylation of peptidyl-aspartic acid to form peptidyl-hydroxyaspartic acid.


nuclear transport

definition: The directed movement of substances into, out of, or within the nucleus.


N-terminal protein myristoylation

definition: The covalent attachment of a myristoyl group to the N-terminal amino acid residue of a protein.


name: macropinocytosis involved in viral entry into host cell

definition: Any macropinocytosis that is involved in the uptake of a virus into a host cell.


peptide cross-linking

definition: The formation of a covalent cross-link between or within protein chains.


serotonin uptake

definition: The directed movement of serotonin into a cell, typically presynaptic neurons or glial cells. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems.


coumarin metabolic process

definition: The chemical reactions and pathways involving coumarins, compounds derived from the phenylacrylic skeleton of cinnamic acids.


benzene metabolic process

definition: The chemical reactions and pathways involving benzene, C6H6, a volatile, very inflammable liquid, contained in the naphtha produced by the destructive distillation of coal, from which it is separated by fractional distillation.


carbon tetrachloride metabolic process

definition: The chemical reactions and pathways involving carbon tetrachloride, a toxic, carcinogenic compound which is used as a general solvent in industrial degreasing operations. It is also used as grain fumigant and a chemical intermediate in the production of refrigerants.


name: halogenated hydrocarbon metabolic process

definition: The chemical reactions and pathways involving halogenated hydrocarbons, compounds derived from hydrocarbons by replacing one or more hydrogen atoms with halogen atoms. Halogens include fluorine, chlorine, bromine and iodine.


base-excision repair, DNA ligation

definition: The ligation by DNA ligase of DNA strands. Ligation occurs after polymerase action to fill the gap left by the action of endonucleases during base-excision repair.


norepinephrine uptake

definition: The directed movement of norepinephrine into a cell, typically presynaptic neurons or glial cells. Norepinephrine (3,4-dihydroxyphenyl-2-aminoethanol) is a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine.


xenobiotic transmembrane transport

definition: The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

description: The process in which a xenobiotic, a compound foreign to the organism exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.


xenobiotic catabolic process

definition: The chemical reactions and pathways resulting in the breakdown of a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

description: The chemical reactions and pathways resulting in the breakdown of a xenobiotic compound, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.


name: cellular response to xenobiotic stimulus

definition: Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.


glycerophosphate shuttle

definition: The process of transferring reducing equivalents from the cytosol into the mitochondria; NADH is used to synthesise glycerol 3-phosphate in the cytosol; this compound is then transported into the mitochondria where it is converted to dihydroxyacetone phosphate (DHAP) using FAD; DHAP then returns to the cytosol to complete the cycle.


protein polyglutamylation

definition: The addition of one or more alpha-linked glutamyl units to the gamma carboxyl group of peptidyl-glutamic acid.


name: C-terminal protein amino acid modification

definition: The alteration of the C-terminal amino acid residue in a protein.


protein polyglycylation

definition: The addition of glycyl units covalently bound to the gamma carboxyl group peptidyl-glutamic acid.


protein side chain deglutamylation

definition: The removal of a glutamate residue from the side chain of a protein. Glutamate side chains are added to glutamic acid residues within the primary protein sequence during polyglutamylation.


tRNA 5'-leader removal

definition: Generation of the mature 5'-end of the tRNA, usually via an endonucleolytic cleavage by RNase P.


tRNA 3'-end processing

definition: The process in which the 3' end of a pre-tRNA molecule is converted to that of a mature tRNA.


name: tRNA splicing, via endonucleolytic cleavage and ligation

definition: Splicing of tRNA 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.


tRNA export from nucleus

definition: The directed movement of tRNA from the nucleus to the cytoplasm.


mitochondrial tRNA 3'-end processing

definition: The process in which the 3' end of a pre-tRNA molecule is converted to that of a mature tRNA in the mitochondrion.


tRNA methylation

definition: The posttranscriptional addition of methyl groups to specific residues in a tRNA molecule.


mitochondrial tRNA thio-modification

definition: The addition a sulfur atom to a nucleotide in a mitochondrial tRNA molecule.


mitochondrial tRNA methylation

definition: The posttranscriptional addition of methyl groups to specific residues in a mitochondrial tRNA molecule.


name: mitochondrial tRNA pseudouridine synthesis

definition: The intramolecular conversion of uridine to pseudouridine in a mitochondrial tRNA molecule.


rRNA methylation

definition: The posttranscriptional addition of methyl groups to specific residues in an rRNA molecule.


rRNA pseudouridine synthesis

definition: The intramolecular conversion of uridine to pseudouridine in an rRNA molecule.


rRNA 2'-O-methylation

definition: The addition of a methyl group to the 2'-oxygen atom of a nucleotide residue in an rRNA molecule during ribosome biogenesis.


response to progesterone

definition: Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a progesterone stimulus.


binding of sperm to zona pellucida

definition: The process in which the sperm binds to the zona pellucida glycoprotein layer of the egg. The process begins with the attachment of the sperm plasma membrane to the zona pellucida and includes attachment of the acrosome inner membrane to the zona pellucida after the acrosomal reaction takes place.


name: fusion of sperm to egg plasma membrane involved in single fertilization

definition: The binding and fusion of a sperm, with the plasma membrane of the oocyte as part of the process of single fertilization. In sperm with flagella, binding occurs at the posterior (post-acrosomal) region of the sperm head.


negative regulation of cell growth

definition: Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth.


regulation of cell growth

definition: Any process that modulates the frequency, rate, extent or direction of cell growth.


phosphatidylinositol dephosphorylation

definition: The process of removing one or more phosphate groups from a phosphatidylinositol.


name: phosphatidylinositol phosphate biosynthetic process

definition: The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate.


positive regulation of cell size

definition: Any process that increases cell size.

description: Any process that increases cell size.


name: positive regulation of signal transduction

definition: Any process that activates or increases the frequency, rate or extent of signal transduction.


positive regulation of translation

definition: Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.


oligonucleotide

A nucleobase-containing molecular entity with an oligomeric structure comprised of a linear sequence of nucleotide residues. An oligonucleotide must contain at least 2 nucleotide residues and typically contains fewer than 30.


amylopectin

A polydisperse highly branched polysaccharide derivative composed of chains of D-glucopyranose residues in alpha(1->4) glycosidic linkage. The chains are joined together by alpha(1->6) glycosidic linkages. A small number of alpha(1->3) glycosidic linkages and some 6-phosphate ester groups also may occur. The branches in amylopectin typically contain 24 to 30 glucose residues.


chitin

An aminoglycan consisting of beta-(1->4)-linked N-acetyl-D-glucosamine residues.


dihydroxyindole

Any member of the class of  hydroxyindoles carrying two hydroxy groups.


chemical entity

A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances.


N-acetylglucosamine

An N-acylglucosamine where the N-acyl group is specified as acetyl.


afatinib

A quinazoline compound having a 3-chloro-4-fluoroanilino group at the 4-position, a 4-dimethylamino-trans-but-2-enamido group at the 6-position, and an (S)-tetrahydrofuran-3-yloxy group at the 7-position. Used (as its dimaleate salt) for the first-line treatment of patients with metastatic non-small cell lung cancer.


sapitinib

A member of the class of quinazolines that is 4-amino-7-methoxyquinazoline in which the amino group has been substituted by a 3-chloro-2-fluorophenyl group and in which position 6 of the quinoline ring has been substituted by a {1-[2-(methylamino)-2-oxoethyl]piperidin-4-yl}oxy group. Sapitinib is a dual tyrosine kinase inhibitor (TKI) of epithelial growth factor receptors (EGFR) HER2 and HER3.


TESEVATINIB

A member of the class of quinazolines that is quinazoline substituted by (3,4-dichloro-2-fluorophenyl)amino, methoxy, and [(3aR,5r,6aS)-2-methyloctahydrocyclopenta[c]pyrrol-5-yl]methoxy groups at positions 4, 6 and 7, respectively. It is a multi-target tyrosine kinase inhibitor of EGFR, ErbB2, KDR, Flt4 and EphB4 and exhibits anti-cancer properties.


A 6-{4-[(4-ethylpiperazin-1-yl)methyl]phenyl}-N-(1-phenylethyl)-7H-pyrrolo[2,3-d]pyrimidin-4-amine which adopts an R-configuration. It is a potent inhibitor of human EGFR, VEGFR and HER2 receptor tyrosine kinases and exhibits anticancer and antiangiogenic activity.


imatinib

A benzamide obtained by formal condensation of the carboxy group of 4-[(4-methylpiperazin-1-yl)methyl]benzoic acid with the primary aromatic amino group of 4-methyl-N(3)-[4-(pyridin-3-yl)pyrimidin-2-yl]benzene-1,3-diamine. Used (as its mesylate salt) for treatment of chronic myelogenous leukemia and gastrointestinal stromal tumours.


ponatinib

A benzamide obtained by the formal condensation of the carboxy group of 3-(imidazo[1,2-b]pyridazin-3-ylethynyl)-4-methylbenzoic acid with the anilino group of 4-[(4-methylpiperazin-1-yl)methyl]-3-(trifluoromethyl)aniline. It is a multi-target tyrosine kinase inhibitor that targets ABL, SRC, FGFR, and others and was designed to overcome the resistance of BCR-ABL mutation to imatinib, in particular the gatekeeper mutation ABL(T315I).


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.


dasatinib

An aminopyrimidine that is 2-methylpyrimidine which is substituted at position 4 by the primary amino group of 2-amino-1,3-thiazole-5-carboxylic acid and at position 6 by a 4-(2-hydroxyethyl)piperazin-1-yl group, and in which the carboxylic acid group has been formally condensed with 2-chloro-6-methylaniline to afford the corresponding amide. A multi-targeted kinase inhibitor, it is used, particularly as the monohydrate, for the treatment of chronic, accelerated, or myeloid or lymphoid blast phase chronic myeloid leukemia. Note that the name 'dasatinib' is used to refer to the monohydrate (USAN) as well as to anhydrous dasatinib (INN).


regorafenib

A pyridinecarboxamide obtained by condensation of 4-[4-({[4-chloro-3-(trifluoromethyl)phenyl]carbamoyl}amino)-3-fluorophenoxy]pyridine-2-carboxylic acid with methylamine. Used for for the treatment of metastatic colorectal cancer in patients who have previously received chemotherapy, anti-EGFR or anti-VEGF therapy.


masitinib

A member of the class of benzamides that is the carboxamide resulting from the formal condensation of the carboxy group of 4-[(4-methylpiperazin-1-yl)methyl]benzoic acid with the primary amino group of 4-methyl-N(3)-[4-(pyridin-3-yl)-1,3-thiazol-2-yl]benzene-1,3-diamine. It is a highly selective oral tyrosine kinase inhibitor.


crenolanib

A member of the class of benzimidazoles that is 1H-benzimidazole which is substituted by a 8-(4-aminopiperidin-1-yl)quinolin-2-yl group at position 1 and by a (3-methyloxetan-3-yl)methoxy group at position 5. It is an inhibitor of type III tyrosine kinases, PDGFRalpha/beta and FLT3 (IC50 of 11, 3.2, and 4 nM). Currently under clinical development for the treatment of acute myeloid leukemia.


dichloroacetate

A monocarboxylic acid anion that is the conjugate base of dichloroacetic acid.


midostaurin

An organic heterooctacyclic compound that is the N-benzoyl derivative of staurosporine.


crizotinib

A  3-[1-(2,6-dichloro-3-fluorophenyl)ethoxy]-5-[1-(piperidin-4-yl)pyrazol-4-yl]pyridin-2-amine that has R configuration at the chiral centre. The active enantiomer, it acts as a kinase inhibitor and is used for the treatment of patients with locally advanced or metastatic non-small cell lung cancer (NSCLC)


semaxanib

An oxindole that is 3-methyleneoxindole in which one of the hydrogens of the methylene group is replaced by a 3,5-dimethylpyrrol-2-yl group.


gilteritinib

A member of the class of pyrazines that is pyrazine-2-carboxamide which is substituted by {3-methoxy-4-[4-(4-methylpiperazin-1-yl)piperidin-1-yl]phenyl}nitrilo, (oxan-4-yl)nitrilo and ethyl groups at positions 3,5 and 6, respectively. It is a potent inhibitor of FLT3 and AXL tyrosine kinase receptors (IC50 = 0.29 nM and 0.73 nM, respectively). Approved by the FDA for the treatment of acute myeloid leukemia in patients who have a FLT3 gene mutation.


linifanib

A member of the class of phenylureas that is urea in which one of the nitrogens is substituted by a 2-fluoro-5-methylphenyl group, while the other is substituted by a p-(3-amino-1H-indazol-4-yl)phenyl group. It is a potent, selective inhibitor of vascular endothelial growth factor and platelet-derived growth factor receptor tyrosine kinases.


pexidartinib

A pyrrolopyridine that is 5-chloro-1H-pyrrolo[2,3-b]pyridine which is substituted by a [6-({[6-(trifluoromethyl)pyridin-3-yl]methyl}amino)pyridin-3-yl]methyl group at position 3. It is a potent multi-targeted receptor tyrosine kinase inhibitor of CSF-1R, KIT, and FLT3 (IC50 of 20 nM, 10 nM and 160 nM, respectively). Approved by the FDA for the treatment of adult patients with symptomatic tenosynovial giant cell tumor (TGCT).


quizartinib

A member of the class of phenylureas that is urea in which one of the amino groups has been substituted by a 5-tert-butyl-1,2-oxazol-3-yl group while the other has been substituted by a phenyl group substituted at the para- position by an imidazo[2,1-b][1,3]benzothiazol-2-yl group that, in turn, is substituted at position 7 by a 2-(morpholin-4-yl)ethoxy group.


hydroxychloroquine

An aminoquinoline that is chloroquine in which one of the N-ethyl groups is hydroxylated at position 2. An antimalarial with properties similar to chloroquine that acts against erythrocytic forms of malarial parasites, it is mainly used as the sulfate salt for the treatment of lupus erythematosus, rheumatoid arthritis, and light-sensitive skin eruptions.


imiquimod

An imidazoquinoline fused [4,5-c] carrying isobutyl and amino substituents at N-1 and C-4 respectively. A prescription medication, it acts as an immune response modifier and is used to treat genital warts, superficial basal cell carcinoma, and actinic keratosis.


tacrolimus

A macrolide lactam containing a 23-membered lactone ring, originally isolated from the fermentation broth of a Japanese soil sample that contained the bacteria Streptomyces tsukubaensis.


disulfiram

An organic disulfide that results from the formal oxidative dimerisation of N,N-diethyldithiocarbamic acid.  A multi-enzyme inhibitor that is used in alcohol aversion therapy and also exhibits anticancer properties.


sirolimus

A macrolide lactam isolated from Streptomyces hygroscopicus consisting of a 29-membered ring containing 4 trans double bonds, three of which are conjugated. It is an antibiotic, immunosupressive and antineoplastic agent.


ribavirin

A 1-ribosyltriazole that is the 1-ribofuranosyl derivative of 1,2,4-triazole-3-carboxamide. A synthetic guanosine analogue, it is an inhibitor of HCV polymerase and possesses a broad spectrum of activity against DNA and RNA viruses.


desmopressin

A synthetic analogue of vasopressin in which 3-mercaptopropionic acid replaces the cysteine residue at position 1 and D-arginine replaces the residue at position 8. An antidiuretic, it increases urine concentration and decreases urine production, and is used (usually as the trihydrate of the acetic acid salt) to prevent and control excessive thirst, urination, and dehydration caused by injury, surgery, and certain medical conditions. It is also used in the diagnosis and treatment of cranial diabetes insipidus and in tests of renal function.


aspirin

A member of the class of benzoic acids that is salicylic acid in which the hydrogen that is attached to the phenolic hydroxy group has been replaced by an acetoxy group. A non-steroidal anti-inflammatory drug with cyclooxygenase inhibitor activity.


bempedoic acid

An alpha,omega-dicarboxylic acid that is pentadecanedioic acid which is substituted by methyl groups groups at positions 2 and 14, and by a hydroxy group at position 8. It is a drug used for the treatment of high LDL cholesterol, which is sometimes referred to as 'bad cholesterol'.


sulfanegen

A member of the class of dithianes that is 1,4-dithiane-2,5-dicarboxylic acid in which the hydrogens at positions 2 and 5 have been replaced by hydroxy groups. Sulfanegen is a prodrug for 3-mercaptopyruvic acid and is an experimental antidote for cyanide poisoning.


amlexanox

A pyridochromene-derived monocarboxylic acid having an amino substituent at the 2-position, an oxo substituent at the 5-position and an isopropyl substituent at the 7-position.


heparin

A highly sulfated linear glycosaminoglycan comprising complex patterns of uronic acid-(1->4)-D-glucosamine repeating subunits. Used as an injectable anticoagulant, it has the highest negative charge density of any known biological molecule.


colchicine

A colchicine that has (S)-configuration. It is a secondary metabolite, has anti-inflammatory properties and is used to treat gout, crystal-induced joint inflammation, familial Mediterranean fever, and many other conditions.


prednisolone

A glucocorticoid that is prednisone in which the oxo group at position 11 has been reduced to the corresponding beta-hydroxy group. It is a drug metabolite of prednisone.


prednisone

A synthetic glucocorticoid drug that is particularly effective as an immunosuppressant, and affects virtually all of the immune system. Prednisone is a prodrug that is converted by the liver into prednisolone (a beta-hydroxy group instead of the oxo group at position 11), which is the active drug and also a steroid.


lomitapide

A member of the class of benzamides obtained by formal condensation of the carboxy group of 4'-(trifluoromethyl)biphenyl-2-carboxylic acid with the primary amino group of 9-[4-(4-aminopiperidin-1-yl)butyl]-N-(2,2,2-trifluoroethyl)-9H-fluorene-9-carboxamide. Used (as its mesylate salt) as a complement to a low-fat diet and other lipid-lowering treatments in patients with homozygous familial hypercholesterolemia.


ezetimibe

A beta-lactam that is azetidin-2-one which is substituted at 1, 3, and 4 by p-fluorophenyl, 3-(p-fluorophenyl)-3-hydroxypropyl, and  4-hydroxyphenyl groups, respectively (the 3R,3'S,4S enantiomer).


rifampicin

A member of the class of rifamycins that is a a semisynthetic antibiotic derived from Amycolatopsis rifamycinica (previously known as Amycolatopsis mediterranei and Streptomyces mediterranei).


chlorpromazine

A substituted phenothiazine in which the ring nitrogen at position 10 is attached to C-3 of an N,N-dimethylpropanamine moiety.


dextromethorphan

A 6-methoxy-11-methyl-1,3,4,9,10,10a-hexahydro-2H-10,4a-(epiminoethano)phenanthrene in which the sterocenters at positions 4a, 10 and 10a have S-configuration. It is a prodrug of dextrorphan and used as an antitussive drug for suppressing cough.


fluvoxamine

An oxime O-ether that is benzene substituted by a (1E)-N-(2-aminoethoxy)-5-methoxypentanimidoyl group at position 1 and a trifluoromethyl group at position 4. It is a selective serotonin reuptake inhibitor that is used for the treatment of obsessive-compulsive disorder.


carbovir diphosphate(3-)

An organophosphate oxoanion that is the trianion of carbovir diphosphate, arising from deprotonation of the diphosphate OH groups; major species at pH 7.3.


carbovir monophosphate(2-)

An organophosphate oxoanion that is the dianion of carbovir monophosphate, arising from deprotonation of the monophosphate OH groups; major species at pH 7.3.


abacavir monophosphate

The organic phosphate that is the 5'-monophosphate of abacavir.


abacavir

A 2,6-diaminopurine that is (1S)-cyclopent-2-en-1-ylmethanol in which the pro-R hydrogen at the 4-position is substituted by a 2-amino-6-(cyclopropylamino)-9H-purin-9-yl group. A nucleoside analogue reverse transcriptase inhibitor (NRTI) with antiretroviral activity against HIV, it is used (particularly as the sulfate) with other antiretrovirals in combination therapy of HIV infection.


A member of the class of ureas that is 1-tert-butylurea in which one of the hydrogens attached to N(3) is substituted by a pyrido[2,3-d]pyrimidin-7-yl group, which is itself substituted at positions 2 and 6 by a 4-(diethylamino)butyl]amino group and a 3,5-dimethoxyphenyl group, respectively. It is a FGF/VEGF receptor tyrosine kinase inhibitor.


A thiopyranopyrimidine in which a 7,8-dihydro-5H-thiopyrano[4,3-d]pyrimidine skeleton is substituted at C-4 by a hydroxy group and at C-2 by a para-(trifluoromethyl)phenyl group.


A carboxamide, the structure of which is that of acetamide substituted on carbon by a 2',3-dimethyl-2,4'-bipyridin-5-yl group and on nitrogen by a 5-(pyrazin-2-yl)pyridin-2-yl group. It is a highly potent, selective and orally bioavailable Porcupine inhibitor (a Wnt signalling inhibitor).


osimertinib

A member of the class of aminopyrimidines that is 4-(1-methylindol-3-yl)pyrimidin-2-amine in which one of the amino hydrogens is replaced by a 2-methoxy-4-[2-(dimethylamino)ethyl](methyl)amino-5-acrylamidophenyl group. Used (as the mesylate salt) for treatment of EGFR T790M mutation positive non-small cell lung cancer.


ceritinib

A member of the class of aminopyrimidines that is 2,6-diamino-5-chloropyrimidine in which the amino groups at positions 2 and 6 are respectively carrying 2-methoxy-4-(piperidin-4-yl)-5-methylphenyl and 2-(isopropylsulfonyl)phenyl substituents. Used for the treatment of ALK-positive metastatic non-small cell lung cancer.


lorlatinib

A cyclic ether that is 16,17-dihydro-2H-8,4-(metheno)pyrazolo[4,3-h][2,5,11]benzoxadiazacyclotetradecin-15(10H)-one substituted by methyl groups at positions 2 and 10R, and by cyano, amino and fluoro groups at positions 3, 7 and 12 respectively. It is a small molecule inhibitor of ALK and ROS1 kinase developed by Pfizer for the treatment of ALK-positive non-small cell lung cancer.


alectinib

An organic heterotetracyclic compound that is 6,6-dimethyl-5,6-dihydro-11H-benzo[b]carbazol-11-one carrying additional cyano, 4-(morpholin-4-yl)piperidin-1-yl and ethyl substituents at positions 3, 8 and 9 respectively. Used (as the hydrochloride salt) for the treatment of patients with anaplastic lymphoma kinase-positive, metastatic non-small cell lung cancer.


A member of the class of diamino-1,3,5-triazines that is 1,3,5-triazine-2,4-diamine in which the amino groups at positions 2 and 4 are respectively carrying 2-methoxy-4-[4-(4-methylpiperazin-1-yl)piperidin-1-yl]phenyl and 2-(propan-2-ylsulfonyl)phenyl substituents. It is a potent inhibitor of anaplastic lymphoma kinase (ALK), Ack and ROS1 activity (IC50 values are 3.5, 5.8 and 8.9 nM respectively) and exhibits anti-cancer properties.


ritonavir

An L-valine derivative that is L-valinamide in which alpha-amino group has been acylated by a [(2-isopropyl-1,3-thiazol-4-yl)methyl]methylcarbamoyl group and in which a hydrogen of the carboxamide amino group has been replaced by a (2R,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl group. A CYP3A inhibitor and antiretroviral drug from the protease inhibitor class used to treat HIV infection and AIDS, it is often used as a fixed-dose combination with another protease inhibitor, lopinavir. Also used in combination with dasabuvir sodium hydrate, ombitasvir and paritaprevir (under the trade name Viekira Pak) for treatment of chronic hepatitis C virus genotype 1 infection as well as cirrhosis of the liver.


tolbutamide

An N-sulfonylurea that consists of 1-butylurea having a tosyl group attached at the 3-position.


ivacaftor

An aromatic amide obtained by formal condensation of the carboxy group of 4-oxo-1,4-dihydroquinoline-3-carboxylic acid with the amino group of 5-amino-2,4-di-tert-butylphenol. Used for the treatment of cystic fibrosis.


azathioprine

A thiopurine that is 6-mercaptopurine in which the mercapto hydrogen is replaced by a 1-methyl-4-nitroimidazol-5-yl group. It is a prodrug for mercaptopurine and is used as an immunosuppressant, prescribed for the treatment of inflammatory conditions and after organ transplantation and also for treatment of Crohn's didease and MS.


CIPROFLOXACIN HYDROCHLORIDE

The anhydrous form of the monohydrochloride salt of ciprofloxacin.


vorapaxar

A carbamate ester that is the ethyl ester of [(1R,3aR,4aR,6R,8aR,9S,9aS)-9-{(E)-2-[5-(3-fluorophenyl)pyridin-2-yl]ethynyl}-1-methyl-3-oxododecahydronaphtho[2,3-c]furan-6-yl]carbamic acid. A protease-activated receptor-1 antagonist used (as its sulfate salt) for the reduction of thrombotic cardiovascular events in patients with a history of myocardial infarction (MI) or with peripheral arterial disease. It has been shown to reduce the rate of a combined endpoint of cardiovascular death, MI, stroke and urgent coronary revascularisation.


cinaciguat

A benzoic acid that is 4-(aminomethyl)benzoic acid in which the amino group is substituted by 4-carboxybutyl and 2-(2-{[4-(2-phenylethyl)benzyl]oxy}phenyl)ethyl groups. It is a soluble guanylate cyclase activator, used for the treatment of acute decompensated heart failure.


nitroglycerin

A nitroglycerol that is glycerol in which the hydrogen atoms of all three hydroxy groups are replaced by nitro groups. It acts as a prodrug, releasing nitric oxide to open blood vessels and so alleviate heart pain.


nicorandil

A pyrimidinecarboxamide that is nicotinamide in which one of the hydrogens attached to the carboxamide nitrogen is replaced by a 2-(nitrooxy)ethyl group. It has both nitrate-like and ATP-sensitive potassium channel activator properties, and is used for the prevention and treatment of angina pectoris.


acitretin

A retinoid that consists of 3,7-dimethylnona-2,4,6,8-tetraenoic acid having a 4-methoxy-2,3,6-trimethylphenyl group attached at position 9.


carbovir triphosphate(4-)

An organophosphate oxoanion that is the tetraanion of carbovir triphosphate, arising from deprotonation of the four triphosphate OH groups; major species at pH 7.3.


mature neutrophil

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

definition: A fully differentiated neutrophil, a granular leukocyte having a nucleus with three to five lobes connected by slender threads, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. They are produced in bone marrow at a rate of 5e10-10e10/day and have a half-life of 6-8 hours. Neutrophils are CD15-positive, CD16-positive, CD32-positive, CD43-positive, CD181-positive, and CD182-positive.


resolvin T1

A docosanoid that is (8E,10Z,14E,16Z,18E)-docosapentaenoic acid carrying three hydroxy substituents at positions 7, 13 and 20.


resolvin T2

A docosanoid that is (8Z,10E,14E,16Z,19Z)-docosapentaenoic acid carrying three hydroxy substituents at positions 7, 12 and 13.


resolvin T3

A docosanoid that is (9E,11E,14E,16Z,19Z)-docosapentaenoic acid carrying three hydroxy substituents at positions 7, 8 and 13.


resolvin T4

A docosanoid that is (8E,10Z,14E,16Z,19Z)-docosapentaenoic acid carrying two hydroxy substituents at positions 7 and 13.


intestinal epithelial cell

description: An epithelial cell of the intestine.


epithelial cell of stomach

description: An epithelial cell found in the lining of the stomach.


hepatocyte

description: The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated.


retinal pigment epithelial cell

definition: An epithelial cell of the retinal pigmented epithelium.


hepatic stellate cell

definition: A cell that is found in the perisinusoidal space of the liver that is capable of multiple roles including storage of retinol, presentation of antigen to T cells (including CD1d-restricted NKT cells), and upon activation, production of extracellular matrix components that can contribute to liver fibrosis. This activated state has a myofibroblast-like phenotype, though it's not clear in the literature if this is terminally differentiated. This cell type comprises approximately 8-15% of total cells in the liver.


all-trans-retinyl stearate

A fatty acid ester formed between stearic acid and all-trans-retinol.


all-trans-retinyl oleate

A fatty acid ester formed between oleic acid and all-trans-retinol.


all-trans-retinyl linoleate

A fatty acid ester formed between linoleic acid and all-trans-retinol.


retinal rod cell

definition: One of the two photoreceptor cell types of the vertebrate retina. In rods the photopigment is in stacks of membranous disks separate from the outer cell membrane. Rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision.


retinal cone cell

definition: One of the two photoreceptor cell types in the vertebrate retina. In cones the photopigment is in invaginations of the cell membrane of the outer segment. Cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision.


glial cell

definition: A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons.


blood vessel endothelial cell

definition: An endothelial cell that lines the vasculature.


pancreatic A cell

definition: A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon.


type L enteroendocrine cell

definition: A enteroendocrine cell type that is numerous in ileum, present in jejunum and large intestine, few in duodenum. This cell type produces glucagon-like immunoreactants (glicentin, glucagon-37, glucagon-29, GLP-1 and -2) and PYY.


keratinocyte

definition: An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.


name: K2C78_HUMAN Keratin, type II cytoskeletal 78 (sprot)

description: A keratin, type II cytoskeletal 78 that is encoded in the genome of human.


name: K2C1_HUMAN Keratin, type II cytoskeletal 1 (sprot)

description: A keratin, type II cytoskeletal 1 that is encoded in the genome of human.


name: K1C15_HUMAN Keratin, type I cytoskeletal 15 (sprot)

description: A keratin, type I cytoskeletal 15 that is encoded in the genome of human.


name: K1C10_HUMAN Keratin, type I cytoskeletal 10 (sprot)

description: A keratin, type I cytoskeletal 10 that is encoded in the genome of human.


name: K1C24_HUMAN Keratin, type I cytoskeletal 24 (sprot)

description: A keratin, type I cytoskeletal 24 that is encoded in the genome of human.


name: K1C14_HUMAN Keratin, type I cytoskeletal 14 (sprot)

description: A keratin, type I cytoskeletal 14 that is encoded in the genome of human.


name: K2C5_HUMAN Keratin, type II cytoskeletal 5 (sprot)

description: A keratin, type II cytoskeletal 5 that is encoded in the genome of human.


type B pancreatic cell

description: A cell that secretes insulin and is located towards the center of the islets of Langerhans.


name: SO1A2_HUMAN Solute carrier organic anion transporter family member 1A2 (sprot)

description: A solute carrier organic anion transporter family member 1A2 that is encoded in the genome of human.


name: K1C19_HUMAN Keratin, type I cytoskeletal 19 (sprot)

description: A keratin, type I cytoskeletal 19 that is encoded in the genome of human.


stem cell of epidermis

definition: A somatic stem cell that is part of the epidermis.


name: DHRS3_HUMAN Short-chain dehydrogenase/reductase 3 (sprot)

description: A short-chain dehydrogenase/reductase 3 that is encoded in the genome of human.


kidney epithelial cell

description: An epithelial cell of the kidney.


cancer

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

definition: A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.

description: A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.


definition: A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2.

description: A disease caused by infection with severe acute respiratory syndrome coronavirus 2.


head and neck squamous cell carcinoma

description: A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.


breast cancer

definition: A thoracic cancer that originates in the mammary gland.

description: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.


rhabdomyosarcoma

definition: A myosarcoma that arise from skeletal muscle progenitors.

description: A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.


melanoma

definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye.

description: A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.


colorectal cancer

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


lung cancer

description: A malignant neoplasm involving the lung.


cutaneous leishmaniasis

definition: A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.

description: Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas.


Alzheimer disease

definition: A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.

description: A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.


glaucoma

description: Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.


peripheral neuropathy

definition: A nervous system disease that is located_in nerves or nerve cells.

description: 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.


eye disorder

definition: An eye and adnexa disease that is located_in the eye.

description: A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.


bacterial infectious disease

definition: A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.

description: An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections.


viral infectious disease

definition: A disease by infectious agent that results_in infection, has_material_basis_in Viruses.

description: Any disease caused by a virus.


influenza

definition: A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.

description: An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.


severe acute respiratory syndrome

definition: A Coronavirus infection that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.

description: A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death.


HIV infectious disease

definition: A viral infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands.

description: An infection caused by the human immunodeficiency virus.


tuberculosis

definition: A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura and located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.

description: A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use.


name: respiratory syncytial virus infectious disease

description: 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.


systemic lupus erythematosus

definition: A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.

description: An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.


infectious disease

definition: A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.

description: A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact.


acute lymphoblastic leukemia

description: 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.


non-small cell lung carcinoma

description: 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.


autoimmune disease

definition: An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.

description: A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).


Noonan syndrome

description: Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.


cardiofaciocutaneous syndrome

definition: A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.

description: Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.


Costello syndrome

definition: A syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.

description: Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.


name: Noonan syndrome with multiple lentigines

description: A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.


carcinoma of esophagus

definition: A esophageal cancer that is located_in the esophagus.

description: Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).


name: chronic myelogenous leukemia, BCR-ABL1 positive

description: A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.


hypertrophic cardiomyopathy

definition: An intrinsic cardiomyopathy that is characterized by abnormal  thickening (hypertrophy) of the heart without any obvious cause.

description: A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.


gastric adenocarcinoma

definition: A stomach carcinoma that derives_from epithelial cells of glandular origin.

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


neurofibroma

description: An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.


glioblastoma

definition: An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.

description: The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)


Lesch-Nyhan syndrome

description: Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.


bone disorder

definition: A musculoskeletal system disease that affects the structure or development of bone or causes an impairment of normal bone function.

description: Diseases of bones.


schizophrenia

definition: A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.

description: A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.


open-angle glaucoma

description: Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.


name: inherited bleeding disorder, platelet-type

definition: A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.


disease

definition: A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.

description: A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.


metabolic disease

definition: A disease that involving errors in metabolic processes of building or degradation of molecules.

description: A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.


intestinal infectious disease

definition: An intestinal disease that involves intestinal infection that has material basis in viruses, bacteria, fungi and parasites.

description: An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa.


epilepsy

definition: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.

description: A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.


tetanus

definition: A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli.

description: A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites.


autoimmune thrombocytopenic purpura

definition: A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.

description: An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.


hypercalcemia disease

description: Abnormally high concentration of calcium in the peripheral blood.


anthrax infection

definition: A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.

description: An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers.


name: dystrophies primarily involving the retinal pigment epithelium


inherited lipid metabolism disorder

definition: An inherited metabolic disorder that involves the creation and degradation of lipids.

description: An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.


anemia

definition: A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.

description: A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.


hereditary angioedema

description: Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.


hemophilia A

definition: A X-linked recessive disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.

description: The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.


hemophilia B

definition: An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.

description: Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.


C1 inhibitor deficiency

definition: A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue.


thrombophilia

description: A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.


listeriosis

description: A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy.


interstitial lung disease 2

definition: An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.

description: A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.


botulism

definition: A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F.

description: A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure.


diphtheria

definition: A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys.

description: A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.


primary bacterial infectious disease

definition: A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.


psychiatric disorder

definition: A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.

description: A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.


Orthocoronavirinae infectious disease

definition: A viral infectious disease that has_material_basis_in Coronavirus.

description: Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.


parasitic infectious disease

description: A successful invasion of a host by an organism that uses the host for food and shelter.


bone development disease

definition: A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.

description: A disease involving the bone development.


definition: A bone marrow cancer that is located_in the bone marrow and results_in the production of too many white blood cells. The cancer possess both dysplastic and proliferative features but are not properly classified as either.

description: A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.


subacute leukemia

definition: A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.


acrocephalosyndactyly

definition: A synostosis that results_in craniosynostosis and syndactyly.

description: Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.


craniosynostosis

definition: A synostosis that results_in premature fusion located_in skull.

description: Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.


lung adenocarcinoma

definition: A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin.

description: A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.


colon adenocarcinoma

definition: A colon carcinoma that derives_from epithelial cells of glandular origin.

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


parathyroid gland carcinoma

definition: An endocrine gland cancer located_in the parathyroid glands located in the neck.

description: A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.


kidney cancer

definition: A urinary system cancer that is located_in the kidney.

description: Primary or metastatic malignant neoplasm involving the kidney.


kidney Wilms tumor

definition: A kidney cancer that affects the kidneys and typically located_in children.

description: An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver.


holoprosencephaly

description: Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.


46,XY complete gonadal dysgenesis

description: 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.


T-cell acute lymphoblastic leukemia

description: Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)


inborn vitamin metabolic disorder

definition: An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.

description: An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process.


methylmalonic acidemia

definition: An organic acidemia that involves an accumulation of methylmalonic acid in the blood.

description: A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.


name: methylmalonic aciduria and homocystinuria type cblC

definition: A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.


megaloblastic anemia

description: Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.


name: methylmalonic aciduria and homocystinuria type cblD

definition: A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.


homocystinuria

definition: An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.

description: An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.


methylcobalamin deficiency type cblE

description: An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.


methylcobalamin deficiency type cblG

description: Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.


inborn vitamin B12 deficiency

definition: A vitamin metabolic disorder that results from low blood levels of vitamin B12.

description: Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.


adrenal gland disorder

definition: An endocrine system disease that is located_in the adrenal gland.

description: A disease involving the adrenal gland.


pseudohermaphroditism

description: A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.


disorder of methionine catabolism

definition: An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.

description: An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.