RNA polymerase I preinitiation complex assembly

The aggregation, arrangement and bonding together of proteins on promoter DNA to form the transcriptional preinitiation complex (PIC), the formation of which is a prerequisite for transcription from an RNA polymerase I promoter.


Nasal pruritus

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


bone regeneration

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

The regrowth of bone following its loss or destruction.


positive regulation of neuron projection regeneration

Any process that activates or increases the frequency, rate or extent of neuron projection regeneration, the regrowth of neuronal processes such as axons or dendrites following their loss or damage.


glutamate-cysteine ligase activity

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

Catalysis of the reaction: L-cysteine + L-glutamate + ATP = L-gamma-glutamyl-L-cysteine + ADP + 2 H+ + phosphate.


Binding to 3'-phosphoadenosine 5'-phosphosulfate (PAPS), a naturally occurring mixed anhydride. It is an intermediate in the formation of a variety of sulfo compounds in biological systems.


Hyperalbuminemia

Elevation in the concentration of albumin in the blood.


negative regulation of cytokine activity

Any process that decreases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells.


bronchiolitis

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

Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath.


positive regulation of metanephric ureteric bud development

Any process that activates or increases the frequency, rate or extent of metanephric ureteric bud development.


interleukin-12 complex

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

A protein complex that is composed of an interleukin-12 alpha (p35, product of the IL12A gene) and an interleukin-12 beta subunit (p40, product of the IL12B gene) and is secreted into the extracellular space.


acetylcholine transport

The directed movement of acetylcholine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Acetylcholine is an acetic acid ester of the organic base choline and functions as a neurotransmitter, released at the synapses of parasympathetic nerves and at neuromuscular junctions.


regulation of kinetochore assembly

Any process that modulates the rate, frequency, or extent of kinetochore assembly, the aggregation, arrangement and bonding together of a set of components to form the kinetochore, a multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.


TNFSF11-mediated signaling pathway

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

The series of molecular signals initiated by the binding of tumor necrosis factor ligand superfamily member 11 (TNFSF11) to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.


tRNA-specific adenosine deaminase activity

Catalysis of the reaction: adenosine + H2O = inosine + NH3, in a tRNA molecule.


cone cell pedicle

A specialized axon terminus which is produced by retinal cone cells. Pedicles are large, conical, flat end-feet (8-10 micrometers diameter) of the retinal cone axon that lie more or less side by side on the same plane at the outer edge of the outer plexiform layer (OPL).


positive regulation of mitochondrial RNA catabolic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving catabolism in the mitochondrion of RNA transcribed from the mitochondrial genome.


regulation of growth plate cartilage chondrocyte proliferation

Any process that modulates the rate, frequency, or extent of the multiplication or reproduction of chondrocytes in a growing endochondral bone, resulting in the expansion of a cell population.


benign neoplasm of pituitary gland

A benign neoplasm that involves the pituitary gland.


Hand tremor

An unintentional, oscillating to-and-fro muscle movement affecting the hand.


Renal Mass

An abnormal growth in the kidney.


ubiquitin-protein transferase inhibitor activity

Binds to and stops, prevents or reduces the activity of a ubiquitin-protein transferase.


GDP-dissociation inhibitor binding

Binding to a GDP-dissociation inhibitor protein.


smooth muscle cell-matrix adhesion

The binding of a smooth muscle cell to the extracellular matrix via adhesion molecules.


chain elongation of O-linked mannose residue

Extension of the O-linked mannose residue of a mannoprotein by the stepwise addition of further mannose molecules.


negative regulation of phospholipase A2 activity

Any process that stops, prevents or reduces the frequency, rate or extent of phospholipase A2 activity.


sphingolipid delta-4 desaturase activity

Catalysis of the reaction: a dihydroceramide + 2 ferrocytochrome b5 + O2 + 2 H+ -> a sphingosine ceramide (aka (4E)-sphing-4-enine ceramide) + 2 ferricytochrome b5 + 2 H2O.


positive regulation of polyamine transmembrane transport

Any process that activates or increases the frequency, rate or extent of polyamine transmembrane transport.


Split nail

A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.


bombesin receptor activity

Combining with bombesin to initiate a change in cell activity.


pulmonary vein morphogenesis

The process in which the anatomical structure of the pulmonary venous blood vessels are generated and organized. Pulmonary veins are blood vessels that transport blood from the lungs to the heart.


regulation of phospholipid efflux

Any process that modulates the frequency, rate or extent of phospholipid efflux.


negative regulation of vitamin D receptor signaling pathway

Any process that stops, prevents, or reduces the frequency, rate or extent of the vitamin D receptor signaling pathway activity.


cellular response to potassium ion starvation

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 deprivation of potassium ions.


enterobiasis

An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.


macrophage apoptotic process

Any apoptotic process in a macrophage, a mononuclear phagocyte present in a variety of tissues.


exo-alpha-(2->8)-sialidase activity

Catalysis of the hydrolysis of alpha-(2->8)-glycosidic linkages of terminal sialic residues in substrates.


thyroid gland carcinoma

A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.


sulfur oxidation

The chemical reactions and pathways resulting the addition of oxygen to elemental sulfur.


negative regulation of presynaptic membrane organization

Any process that stops, prevents or reduces the frequency, rate or extent of presynaptic membrane organization.


pre-miRNA export from nucleus

Transport of pre-microRNAs (pre-miRNAs) from the nucleus to the cytoplasm. Pre-miRNAs are a ~60-70 nucleotide stem loop intermediate in miRNA production, produced by the nuclear cleavage of a primary miRNA (pri-mRNA) transcript. Pre-miRNAs are transported from the nucleus to the cytoplasm where further cleavage occurs to produce a mature miRNA product.


diadenosine polyphosphate biosynthetic process

The chemical reactions and pathways resulting in the formation of diadenosine polyphosphate, a derivative of the nucleoside adenosine with phosphate groups attached.


regulation of plasma lipoprotein oxidation

Any process that modulates the frequency, rate or extent of lipoprotein oxidation, occurring in the blood plasma.


protein K29-linked deubiquitination

A protein deubiquitination process in which a K29-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 29 of the ubiquitin monomers, is removed from a protein.


vagus nerve morphogenesis

The process in which the anatomical structure of the vagus nerve is generated and organized. This nerve is primarily sensory but also has visceromotor components. It originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components. It controls some motor functions such as speech. The sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis.


anaplastic large cell lymphoma

Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.


proximal/distal axis specification

The establishment, maintenance and elaboration of the proximal/distal axis. The proximal/distal axis is defined by a line that runs from main body (proximal end) of an organism outward (distal end).


rhombomere 3 morphogenesis

The process in which the anatomical structure of rhombomere 3 is generated and organized. Rhombomeres are transverse segments of the developing rhombencephalon. Rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates. Rhombomeres are numbered in an anterior to posterior order.


RNA nuclear export complex

A complex which usually consists of three components, e.g. in Xenopus and yeast, the export receptor CRM1 (also known as exportin 1), the Ran protein and any RNA with a nuclear export sequence (NES). The complex acts to export RNA molecules with a NES from the nucleus through a nuclear pore.


Catalysis of the reaction: a very-long-chain 2,3-saturated fatty acyl-CoA + H+ + oxidized [electron-transfer flavoprotein] = a very-long-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein]. A very long-chain fatty acid is a fatty acid which has a chain length greater than C22.


Congenital malformation of genital organs


Monomorphic ventricular tachycardia

A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).


neuroblast differentiation

The process in which a relatively unspecialized cell acquires specialized features of a neuroblast. There are at least four stages through which the pluripotent cells of epiblast or blastula become neuroblasts.


Pneumatosis

The presence of gas in an anatomical location where it is not normally found.


regulation of T-helper 2 cell activation

Any process that modulates the frequency, rate or extent of T-helper 2 cell activation.


ciliary inversin compartment

Proximal part of the ciliary shaft to which the inversin protein (also called Inv) specifically localizes. The inversin compartment appears to have a different protein composition than the rest of the cilium, although there is no structure that separates it form the distal part of the cilium.


periventricular leukomalacia

Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.


prolactin signaling pathway

The series of molecular signals initiated by the binding of the peptide hormone prolactin to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.


Derlin-1-VIMP complex

A protein complex containing, in mammals, Derlin-1 and VCP-interacting membrane protein (VIMP). The complex links the p97/VCP-containing ATPase complex with Derlin-1 during translocation of protein substrates from the endoplasmic reticulum to the cytosol for degradation by the cytosolic proteasome.


dTMP metabolic process

The chemical reactions and pathways involving dTMP, deoxyribosylthymine monophosphate (2'-deoxyribosylthymine 5'-phosphate).


keratoconus

A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances.


ammonium homeostasis

Any biological process involved in the maintenance of an internal steady state of ammonium.


oval window

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

The oval opening on the medial wall of the tympanic cavity leading into the vestibule, close to the foot of the stapes.


tricarboxylic acid transmembrane transporter activity

Enables the transfer of tricarboxylic acids from one side of a membrane to the other. Tricarboxylic acid are organic acids with three COOH groups.


panuveitis

A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers.


polyprenyltransferase activity

Catalysis of the transfer of multiple prenyl groups from one compound (donor) to another (acceptor).


nerve growth factor receptor activity

Combining with nerve growth factor (NGF), to prevent apoptosis in neurons and promote nerve growth, or to initiate a change in cell activity.


kidney cortex necrosis

Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity.


regulation of neurotransmitter receptor activity

Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors.


tryptophan 2,3-dioxygenase activity

Catalysis of the reaction: L-tryptophan + O2 = N-formyl-L-kynurenine.


Factor XII activation

Any process that activates Factor XII (Hageman factor). Factor XII is a protein synthesized by the liver that circulates in an inactive form until it encounters collagen or basement membrane or activated platelets (as occurs at the site of endothelial injury). Factor XII then undergoes a conformational change (becoming factor XIIa), exposing an active serine center that can subsequently cleave protein substrates and activate a variety of mediator systems. Factor XII is a participant in the clotting cascade as well as the kinin cascade.


regulation of rDNA heterochromatin formation

Any process that modulates the rate, frequency, or extent of rDNA heterochromatin formation.


Labored Breathing

Breathing that requires observed effort or an increased amount of energy.


Abnormality of visual evoked potentials

An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.


antigen processing and presentation of polysaccharide antigen via MHC class II

The process in which an antigen-presenting cell expresses a polysaccharide antigen on its cell surface in association with an MHC class II protein complex.


adherens junction maintenance

The maintenance of an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments.


placental abruption

Vaginal bleeding preceding the 20th week of gestation.


chronic myelomonocytic leukemia

A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.


optic nerve structural organization

The process that contributes to the act of creating the structural organization of the optic nerve. This process pertains to the physical shaping of a rudimentary structure. The sensory optic nerve originates from the bipolar cells of the retina and conducts visual information to the brainstem. The optic nerve exits the back of the eye in the orbit, enters the optic canal, and enters the central nervous system at the optic chiasm (crossing) where the nerve fibers become the optic tract just prior to entering the hindbrain.


regulation of lung ciliated cell differentiation

Any process that modulates the frequency, rate or extent of lung ciliated cell differentiation.


Catalysis of the reaction: GDP-L-fucose + beta-D-galactosyl-R = GDP + alpha-L-fucosyl-(1,2)-beta-D-galactosyl-R.


stereocilium membrane

The portion of the plasma membrane surrounding a stereocilium.


RNA-dependent RNA polymerase activity

Catalysis of the reaction: nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1); uses an RNA template, i.e. the catalysis of RNA-template-directed extension of the 3'-end of an RNA strand by one nucleotide at a time.


hypothalamic tangential migration using cell-axon interactions

The movement of a hypothalamic neuronal precursor tangentially through the forebrain using an interaction of the migrating cells with axons of other neurons.


malonyltransferase activity

Catalysis of the transfer of a malonyl (HOOC-CH2-CO-) group to an acceptor molecule.


clathrin coat disassembly

The disaggregation of a clathrin coat into its constituent components; results in stripping or removing the clathrin coat from clathrin-coated vesicles (CCV) before fusing with their targets. CVVs transport cargo from plasma membrane and trans-Golgi to the endosomal system.


C-terminal protein methylation

The methylation of the C-terminal amino acid of a protein.


biliverdin reductase (NAD(P)+) activity

Catalysis of the reaction: bilirubin + NAD(P)+ = biliverdin + NAD(P)H + H+.


Recurrent infections

Increased susceptibility to infections.


positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia

Any positive regulation of proteasomal ubiquitin-dependent protein catabolic process that is involved in a cellular response to hypoxia.


cellular response to interleukin-13

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 an interleukin-13 stimulus.


positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria

Any process that activates or increases the frequency, rate, or extent of biosynthesis of antibacterial peptides active against Gram-positive bacteria.


oxidative single-stranded DNA demethylation

Removal of the methyl group from one or more nucleotides within a single-stranded DNA molecule involving the oxidation (i.e. electron loss) of one or more atoms.


adrenal cortex development

The process whose specific outcome is the progression of the adrenal cortex over time, from its formation to the mature structure. The adrenal cortex is located at the periphery of the adrenal gland and controls glucose and electrolyte metabolism, response to stress and sexual development through the production of different classes of steroid hormones (glucocorticoids, mineralocorticoids and androgens).


negative regulation of mature B cell apoptotic process

Any process that stops, prevents, or reduces the frequency, rate, or extent of mature B cell apoptotic process.


oncostatin-M receptor activity

Combining with oncostatin-M and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.


negative regulation of granulocyte chemotaxis

Any process that decreases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus.


dITP diphosphatase activity

Catalysis of the reaction: dITP + H2O = dIMP + H+ + diphosphate.


positive regulation of response to food

Any process that activates, maintains, or increases the rate of a response to a food stimulus.


positive regulation of keratinocyte apoptotic process

Any process that activates or increases the frequency, rate or extent of keratinocyte apoptotic process.


scaRNA localization to Cajal body

A process in which a small Cajal body-specific RNA is transported to, or maintained in, a Cajal body.


Catalysis of the reaction: 2-oxoglutarate + L-alanine = L-glutamate + pyruvate.


Muscular ventricular septal defect

The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.


regulation of skeletal muscle fiber differentiation

Any process that modulates the frequency, rate or extent of skeletal muscle fiber differentiation.


Hypophagia

Reduced ingestion of food.


positive regulation of immature T cell proliferation in thymus

Any process that activates or increases the frequency, rate or extent of immature T cell proliferation in the thymus.


Aplastic bone marrow

Depletion of stem cells in the bone marrow that results in the lack of production of hematopoietic cells.


negative regulation of transcription by RNA polymerase III

Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase III.


positive regulation of B cell chemotaxis

Any process that activates or increases the frequency, rate or extent of B cell chemotaxis.


glucose-6-phosphatase activity

Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate.


Leriche syndrome

An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention.


astrocyte activation

A change in morphology and behavior of an astrocyte resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.


negative regulation of protein tetramerization

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


neutrophil clearance

The selective elimination of senescent neutrophils from the body by autoregulatory mechanisms.


glyoxylate cycle

A modification of the TCA cycle occurring in some plants and microorganisms, in which isocitrate is cleaved to glyoxylate and succinate. Glyoxylate can then react with acetyl-CoA to form malate.


tetanus

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.


external ear disorder

A disease involving the external ear.


regulation of dendritic spine maintenance

Any process that modulates the frequency, rate or extent of dendritic spine maintenance.


Ventricular flutter

A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.


The chemical reactions and pathways resulting in the formation of glycerol-3-phosphate, a phosphoric monoester of glycerol.


Retinoic acid syndrome

A syndrome observed in patients with acute promyelocytic leukemia treated with all-trans retinoic acid. It is characterized by weight gain, dyspnea, pleural and pericardial effusions, leukocytosis, and renal failure.


Electromechanical dissociation

An electrocardiographic finding of the presence of cardiac electrical rhythm without a proper response of the myocardial tissue and mechanical cardiac output.


epithelial-mesenchymal signaling involved in prostate gland development

Any process that results in the transfer of information from an epithelial cell to a mesenchymal cell where it is interpreted and contributes to the progression of the prostate gland over time.


negative regulation of barbed-end actin filament capping

Any process that stops, prevents or reduces the frequency, rate or extent of barbed-end actin filament capping.


Swi5-Sfr1 complex

A conserved DNA recombinase mediator complex that contains two Swi5 monomers and one Sfr1 monomer in Schizosaccharomyces, or orthologs thereof (e.g. Sae3p and Mei5p in Saccharomyces).


N-terminal peptidyl-glutamic acid acetylation

The acetylation of the N-terminal glutamic acid of proteins to form the derivate acetyl-glutamic acid.


epidermal cell fate specification

The process in which a cell becomes capable of differentiating autonomously into an epidermal cell in an environment that is neutral with respect to the developmental pathway; upon specification, the cell fate can be reversed.


macrophage derived foam cell differentiation

The process in which a monocyte acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions.


regulation of intrinsic apoptotic signaling pathway in response to osmotic stress

Any process that modulates the frequency, rate or extent of intrinsic apoptotic signaling pathway in response to osmotic stress.


toxoplasmosis

A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.


negative regulation of renal sodium excretion

Any process that decreases the amount of sodium excreted in urine over a unit of time.


Fractured hand bones

A traumatic break in one or more of the bones in the hand.


negative regulation of actin filament severing

Any process that stops, prevents or reduces the frequency, rate or extent of actin filament severing.


epididymo-orchitis

A disorder involving inflammation of the epididymis and testes.


Catalysis of the reaction: diphospho-1D-myo-inositol polyphosphate + H2O = 1D-myo-inositol polyphosphate + phosphate.


regulation of MyD88-dependent toll-like receptor signaling pathway

Any process that modulates the frequency, rate, or extent of MyD88-dependent toll-like receptor signaling pathway.


kininogen binding

Binding to a kininogen, a kinin precursor.


UMP/dUMP kinase activity

Catalysis of the reaction: ATP + (d)UMP = ADP + (d)UDP.


RNA polymerase transcription factor SL1 complex

A RNA polymerase I-specific transcription factor complex that contains the TATA-box-binding protein (TBP) and at least three TBP-associated factors including proteins known in mammals as TAFI110, TAFI63 and TAFI48.


Buttock Pain

Painful sensation in the buttocks.


positive regulation of Schwann cell migration

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


inositol tetrakisphosphate kinase activity

Catalysis of the reaction: inositol tetrakisphosphate + ATP = inositol pentakisphosphate + ADP.


canonical Wnt signaling pathway involved in metanephric kidney development

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 that contribute to the progression of the metanephric kidney over time. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes.


Lhermitte's sign

An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.


anterior cerebral artery

One of a pair of arteries on the brain that supply oxygen to most medial portions of frontal lobes and superior medial parietal lobes. The 2 anterior cerebral arteries arise from the internal carotid artery and are part of the Circle of Willis.


esophagus smooth muscle contraction

A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the esophagus. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The esophagus is the muscular membranous segment between the pharynx and the stomach in the upper gastrointestinal tract.


Abnormal prothrombin time

Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.


Acetabular dysplasia

A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.


positive regulation of non-motile cilium assembly

Any process that activates or increases the frequency, rate or extent of non-motile cilium assembly.


L-leucine transaminase activity

Catalysis of the reaction: 2-oxoglutarate + L-leucine = 4-methyl-2-oxopentanoate + L-glutamatic acid.


benign neoplasm of brain

A benign neoplasm that involves the brain.


ureter urothelium development

The process whose specific outcome is the progression of the urothelium of the ureter over time, from its formation to the mature structure. The urothelium is an epithelium that makes up the epithelial tube of the ureter.


positive regulation of mineralocorticoid secretion

Any process that activates or increases the frequency, rate or extent of mineralocorticoid secretion.


cell proliferation involved in outflow tract morphogenesis

The multiplication or reproduction of cells, resulting in the expansion of a cell population that contributes to the shaping of the outflow tract.


plantar wart

A wart in the plantar surface of the foot. It is caused by human papillomavirus.


mammary gland specification

The regionalization process in which the mammary line is specified. The mammary line is a ridge of epidermal cells that will form the mammary placodes.


positive regulation of platelet-derived growth factor receptor signaling pathway

Any process that increases the frequency, rate or extent of the platelet-derived growth factor receptor signaling pathway.


clathrin-sculpted glutamate transport vesicle membrane

The lipid bilayer surrounding a clathrin-sculpted glutamate transport vesicle.


threonine aldolase activity

Catalysis of the reaction: L-threonine = glycine + acetaldehyde.


MutSalpha complex

A heterodimer involved in the recognition and repair of base-base and small insertion/deletion mismatches. In human the complex consists of two subunits, MSH2 and MSH6.


immune response to tumor cell

An immune system process that functions in the response of an organism to a tumor cell.


Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: sulfate(out) + Na+(out) = sulfate(in) + Na+(in).


extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration

The rearrangements of the microtubule cytoskeleton that result in the extension of a leading process, where this process is involved in the movement of cells along radial glial cells.


polyp of gallbladder

A polyp that involves the gall bladder.


ER to Golgi ceramide transport

The directed movement of a ceramide from the endoplasmic reticulum (ER) to the Golgi. Ceramides are a class of lipid composed of sphingosine linked to a fatty acid.


regulation of transforming growth factor beta3 production

Any process that modulates the frequency, rate, or extent of production of transforming growth factor-beta3.


Antepartum hemorrhage

Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.


sinoatrial node cell differentiation

The process in which a relatively unspecialized cell acquires specialized features of a sinoatrial (SA) node cell. SA node cells are pacemaker cells that are found in the sinoatrial node.


nuclear pore central transport channel

The central substructure of the nuclear pore complex (NPC), through which nucleocytoplasmic transport of RNAs, proteins and small molecules occurs. The central transport channel is filled with FG-nucleoporins, which form a selective barrier and provide a series of binding sites for transporter proteins. Characterized S. cerevisiae FG-nucleoporins include Nup159p, Nup145Np, Nup116p, Nup100p, Nsp1p, Nup57p, Nup49p, Nup42p, Nup53p, Nup59p/Asm4p, Nup60p and Nup1. Characterized vertebrate FG-nucleoporins include Nup214, Nup98, Nup62, Nup54, Nup58/45, NLP1, and Nup153.


negative regulation of vascular associated smooth muscle contraction

Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle contraction.


ischemic neuropathy

Neuropathy that is caused by inadequate blood supply.


humoral hypercalcemia of malignancy

Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function.


cerebellum structural organization

The process that contributes to the act of creating the structural organization of the cerebellum. This process pertains to the physical shaping of a rudimentary structure. The cerebellum is the portion of the brain in the back of the head between the cerebrum and the pons. The cerebellum controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills.


Focal impaired awareness seizure

Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.


acetate metabolic process

The chemical reactions and pathways involving acetate, the anion of acetic acid.


macular holes

A hole in the macula of the retina.


adiponectin binding

Binding to adiponectin, a protein hormone produced by adipose tissue that modulates a number of metabolic processes, including glucose regulation and fatty acid catabolism.


lateral element assembly

The cell cycle process in which lateral elements are formed. Axial elements form a proteinaceous core between the two sister chromatids of each chromosome; the two axial elements then connect along their entire lengths by fine fibers known as transverse filaments, forming the lateral elements.


dacryocystitis

Inflammation of the lacrimal sac.


cell-cell signaling involved in cell fate commitment

Signaling at long or short range between cells that results in the commitment of a cell to a certain fate.


Tongue Carcinoma

A malignant tumor arising from the epithelium that covers the tongue.  The vast majority of tongue carcinomas are moderately or poorly differentiated squamous cell carcinomas.


polyprenol biosynthetic process

The chemical reactions and pathways resulting in the formation of polyprenols, prenols with more than 4 isoprenoid residues, which may be all-trans, or a mixture of cis and trans.


definitive erythrocyte differentiation

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


ubiquitin-dependent glycoprotein ERAD pathway

An ERAD pathway whereby endoplasmic reticulum (ER)-resident glycoproteins are targeted for degradation. Includes differential processing of the glycoprotein sugar chains, retrotranslocation to the cytosol and degradation by the ubiquitin-proteasome pathway. A glycoprotein is a compound in which a carbohydrate component is covalently bound to a protein component.


granuloma formation

The formation of nodular inflammatory lesions, usually small or granular, firm, persistent, well-structured, and containing compactly grouped T lymphocytes and modified phagocytes such as epithelioid cells, giant cells, and other macrophages. Granuloma formation represents a chronic inflammatory response initiated by various infectious and noninfectious agents. The center of a granuloma consists of fused macrophages, which can become necrotic.


Chronic tubulointerstitial nephritis

Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.


cell motility involved in cerebral cortex radial glia guided migration

The movement of a cell along the process of a radial glial cell involved in cerebral cortex glial-mediated radial migration.


negative regulation of RIG-I signaling pathway

Any process that stops, prevents, or reduces the frequency, rate or extent of the RIG-I signaling pathway.


diphosphate metabolic process

The chemical reactions and pathways involving diphosphate, the anion or salt of diphosphoric acid.


Acute encephalopathy

A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes.


hematopoietic stem cell migration to bone marrow

The orderly movement of a hematopoietic stem cell into the bone marrow, and its subsequent positioning within defined functional compartments in that microenvironment. A hematopoietic stem cell is a cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system.


Capillary fragility

Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).


Long term memory impairment

A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).


detection of glucose

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


immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor

The process of transporting polymeric IgA and polymeric IgM immunoglobulin, via transcytosis mediated by the polymeric immunoglobulin receptor (pIgR), from the basolateral surface to apical surface of an epithelial cell. At the apical surface the immunoglobulin binding portion of the pIgRis cleaved and remains bound to the transported immunoglobulin as secretory component (SC). The same process is used for the transport and excretion of IgA immune complexes to the luminal surface of the mucosa.


regulation of apoptotic process in bone marrow cell

Any process that modulates the occurrence or rate of cell death by apoptotic process in the bone marrow.


facioacoustic ganglion development

The process whose specific outcome is the progression of an acoustico-facial VII-VIII ganglion complex over time, from its formation to the mature structure.


G protein-coupled receptor dimeric complex

A protein complex that contains two G protein-coupled receptors.


ventral midline development

The process whose specific outcome is the progression of the ventral midline over time, from its formation to the mature structure. In protostomes (such as insects, snails and worms) as well as deuterostomes (vertebrates), the midline is an embryonic region that functions in patterning of the adjacent nervous tissue. The ventral midline in insects is a cell population extending along the ventral surface of the embryo and is the region from which cells detach to form the ventrally located nerve cords. In vertebrates, the midline is originally located dorsally. During development, it folds inwards and becomes the ventral part of the dorsally located neural tube and is then called the ventral midline, or floor plate.


anthranilate metabolic process

The chemical reactions and pathways involving anthranilate (2-aminobenzoate).


haptoglobin-hemoglobin complex

A protein complex formed by the stable binding of a haptoglobin to hemoglobin.


atrial septal defect

Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.


Skin tear

A break in skin tissue caused by friction or shearing.


Golgi vesicle prefusion complex stabilization

The binding of specific proteins to the t-SNARE/v-SNARE/SNAP25 complex, by which the Golgi vesicle prefusion complex is stabilized.


bullous impetigo

Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus.


dendritic cell proliferation

The expansion of a dendritic cell population by cell division. A dendritic cell is a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation.


sperm cytoplasmic droplet

A small amount of cytoplasm surrounded by a cell membrane that is generally retained in spermatozoa after spermiogenesis, when the majority of the cytoplasm is phagocytosed by Sertoli cells to produce what are called residual bodies. Initially, the droplet is located at the neck just behind the head of an elongated spermatid. During epididymal transit, the cytoplasmic droplet migrates caudally to the annulus at the end of the midpiece; the exact position and time varies by species. The cytoplasmic droplet consists of lipids, lipoproteins, RNAs, a variety of hydrolytic enzymes, receptors, ion channels, and Golgi-derived vesicles. The droplet may be involved in regulatory volume loss (RVD) at ejaculation, and in most species, though not in humans, the cytoplasmic droplet is lost at ejaculation. Note that the cytoplasmic droplet is distinct from 'excessive residual cytoplasm' that sometimes remains in epididymal spermatozoa, particularly when spermiogenesis has been disrupted.


negative regulation of tooth mineralization

Any process that stops, prevents, or reduces the frequency, rate or extent of tooth mineralization, the deposition of calcium salts in tooth structures.


interferon binding

Binding to an interferon, a protein produced by the immune systems of many animals in response to a challenge by a foreign agent.


Cerebrovascular Insufficiency

A condition resulting in inadequate blood flow through the blood vessels supplying the brain, due to intrinsic disease of the vasculature.


osteitis fibrosa

A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism.


Anisocytosis

Abnormally increased variability in the size of erythrocytes.


RNA-templated transcription

The synthesis of an RNA transcript from an RNA template.


positive regulation of chronic inflammatory response to antigenic stimulus

Any process that activates or increases the frequency, rate, or extent of a chronic inflammatory response to an antigenic stimulus.


negative regulation of response to alcohol

Any process that stops, prevents or reduces the frequency, rate or extent of response to alcohol.


acetate-CoA ligase activity

Catalysis of the reaction: ATP + acetate + CoA = AMP + diphosphate + acetyl-CoA.


Pancolitis

Inflammation of the entire colon.


Small for gestational age

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.


glycogen synthase activity, transferring glucose-1-phosphate

Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UMP + (1,4)-alpha-D-glucosyl(n)-glucose-1-phosphate.


Insomnia exacerbated

Insomnia that is made worse by other factors, including pain, physiological or psychological disorders, external causes, or pharmacologic interventions.


epithalamus development

The progression of the epithalamus over time from its initial formation until its mature state. The epithalamus is the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle.


Occipital neuralgia

A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.


Langerhans cell histiocytosis

Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.


CHOP-ATF4 complex

A heterodimeric transcription factor complex that is composed of CHOP (C/EBP homology protein, GADD153) and ATF4 (activating transcription factor 4, also known as cAMP response element binding protein-2/CREB-2) subunits.


muscle cell projection

A prolongation or process extending from a muscle cell. A muscle cell is a mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns.


detection of hypoxia

The series of events in which a stimulus indicating lowered oxygen tension is received by a cell and converted into a molecular signal. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.


negative regulation of cerebellar granule cell precursor proliferation

The process that stops, prevents or reduces the rate or extent of granule cell precursor proliferation.


regulation of fever generation by regulation of prostaglandin secretion

Any process that modulates the rate or extent of fever generation via regulation of the frequency, rate or extent of the regulated release of a prostaglandin from a cell.


L-histidine transport

The directed movement of a L-histidine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


Catalysis of the reaction: malonyl-CoA + [acyl-carrier protein] = CoA + malonyl-[acyl-carrier protein].


Primary hypothyroidism

A type of hypothyroidism that results from a defect in the thyroid gland.


D-glucose transmembrane transporter activity

Enables the transfer of the D-enantiomer of the hexose monosaccharide glucose from one side of a membrane to the other.


Ulcer of rectum

A circumscribed inflammatory and necrotic erosive lesion in the mucosa surface of the rectum.


SPOTS complex

A multiprotein complex at least composed of serine palmitoyltransferases and ORM proteins (known as ORMDL proteins in mammals and other higher vertebrates) that plays a key role in sphingolipid homeostasis.


regulation of vesicle size

Any process that modulates the size of a vesicle.


establishment of endothelial intestinal barrier

The establishment of a barrier between endothelial cell layers of the intestine to exert specific and selective control over the passage of water and solutes, thus allowing formation and maintenance of compartments that differ in fluid and solute composition.


benzaldehyde dehydrogenase (NAD+) activity

Catalysis of the reaction: benzaldehyde + NAD+ + H2O = benzoate + NADH + H+.


glycine-gated chloride channel complex

A protein complex that forms a transmembrane channel through which chloride ions may pass in response to glycine binding to the channel complex or one of its constituent parts.


negative regulation of amyloid-beta clearance

Any process that stops, prevents or reduces the frequency, rate or extent of amyloid-beta clearance.


atrioventricular node development

The process whose specific outcome is the progression of the atrioventricular (AV) node over time, from its formation to the mature structure. The AV node is part of the cardiac conduction system that controls the timing of ventricle contraction by receiving electrical signals from the sinoatrial (SA) node and relaying them to the His-Purkinje system.


tRNA export from nucleus

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


chondroitin sulfate binding

Binding to chondroitin sulfate, a glycosaminoglycan made up of two alternating monosaccharides: D-glucuronic acid (GlcA) and N-acetyl-D-galactosamine (GalNAc).


Ring scotoma

An annular field defect centered on fixation.


PR-DUB complex

A multimeric protein complex that removes monoubiquitin from histone H2A. In Drosophila and mammals, the core of the complex is composed of Calypso/BAP1 and Asx/ASXL1, respectively.


primary sex determination, germ-line

The transmission of information about sexual status, from the initial general determination, to signals specific to the germ-line.


tendon formation

The process that gives rise to a tendon. This process pertains to the initial formation of a tendon from unspecified parts.


cell proliferation involved in heart morphogenesis

The multiplication or reproduction of cells, resulting in the expansion of a cell population that contributes to the shaping of the heart.


Perforation of stomach

A rupture in the gastric wall caused by traumatic or pathologic processes.


Abdominal adhesions

Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane).


intrinsic apoptotic signaling pathway in response to hydrogen peroxide

The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to hydrogen peroxide (H2O2).


glycine-tRNA ligase activity

Catalysis of the reaction: ATP + glycine + tRNA(Gly) = AMP + diphosphate + glycyl-tRNA(Gly).


vesicle targeting, trans-Golgi to endosome

The process in which vesicles are directed to specific destination membranes during transport from the trans-Golgi to the endosome.


nocturnal enuresis

Urination during sleep.


growth hormone-releasing hormone activity

The action characteristic of growth hormone-releasing hormone, any of a family of peptide hormones that act on the anterior pituitary to stimulate the secretion of growth hormone and exert a trophic effect on the gland.


glycine betaine biosynthetic process from choline

The chemical reactions and pathways resulting in the formation of betaine (N-trimethylglycine) from the oxidation of choline.


positive regulation of myeloid dendritic cell activation

Any process that stimulates, induces or increases the rate of myeloid dendritic cell activation.


Anterior chamber cells

Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


negative regulation of muscle atrophy

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


anal fistula

A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess.


prolactin-producing pituitary gland adenoma

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


regulation of lateral mesodermal cell fate specification

Any process that modulates the frequency, rate or extent of lateral mesoderm cell fate specification.


invasive breast carcinoma

A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women.


fatty alcohol metabolic process

The chemical reactions and pathways involving fatty alcohol.


acrosomal matrix

A structural framework, or 'dense core' at the interior of an acrosome. May regulate the distribution of hydrolases within the acrosome and their release during the acrosome reaction.


Posterior synechiae of the anterior chamber

Adhesions between the iris and the lens.


DNA transposition

A type of transposition in which a transposable element (transposon) is moved to another part of a genome, either by a cut-and-paste mechanism or a replicative mechanism.


discoid lupus erythematosus

A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE).


H zone

A relatively pale zone traversing the center of the A band of a sarcomere, visible in relaxed muscle fibers; consists of the central portion of thick (myosin) filaments that are not overlapped by thin (actin) filaments.


Golgi vesicle fusion to target membrane

The joining of the lipid bilayer membrane around a Golgi transport vesicle to the target lipid bilayer membrane.


Tibial torsion

Twisted position of the tibia (shin bone) associated with pathological rotation of the leg.


regulation of blood volume by renal aldosterone

The process in which the hormone aldosterone decreases the rate of diuresis and natriuresis resulting in increased blood volume.


Apoptosis

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telogen effluvium

A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.


branched-chain amino acid biosynthetic process

The chemical reactions and pathways resulting in the formation of amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine.


negative regulation of protein homotetramerization

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


G0 to G1 transition

The mitotic cell cycle phase transition whose occurrence commits the cell from the G0 quiescent state to the G1 phase. Under certain conditions, cells exit the cell cycle during G1 and remain in the G0 state as nongrowing, non-dividing (quiescent) cells. Appropriate stimulation of such cells induces them to return to G1 and resume growth and division. The G0 to G1 transition is accompanied by many changes in the program of gene expression.


G protein-coupled neurotensin receptor activity

Combining with the tridecapeptide neurotensin to initiate a G-protein mediated change in cell activity. A G-protein is a signal transduction molecule that alternates between an inactive GDP-bound and an active GTP-bound state.


double-stranded methylated DNA binding

Binding to double-stranded methylated DNA. Methylation of cytosine or adenine in DNA is an important mechanism for establishing stable heritable epigenetic marks.


proteinase activated receptor binding

Binding to a proteinase activated receptor.


KDEL sequence binding

Binding to a KDEL sequence, the C terminus tetrapeptide sequence Lys-Asp-Glu-Leu found in proteins that are to be retained in the endoplasmic reticulum.


Gentian violet cation

An iminium ion that is malachite green cation in which the hydrogen at the para- psition of the monosubstituted phenyl group is replaced by a dimethylamino group.


transcription factor TFIIF complex

A general transcription initiation factor which in humans consists of a heterodimer of an alpha and a beta subunit. Helps recruit RNA polymerase II to the initiation complex and promotes translation elongation.


palmar fibromatosis

A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.


sensory processing

Any neural process required for an organism to sense and interpret the dimensions of a sensory experience: modality, location, intensity and affect.


oropharynx squamous cell carcinoma

A squamous cell carcinoma that involves the oropharynx.


glutamate catabolic process to aspartate

The chemical reactions and pathways resulting in the breakdown of glutamate into other compounds, including aspartate.


extrahepatic cholestasis

Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver.


negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric

Any process that stops, prevents or reduces the frequency, rate or extent of maintenance of mitotic sister chromatid cohesion, telomeric.


Splenic rupture

A breach of the capsule of the spleen.


peripheral nervous system neuron axonogenesis

Generation of a long process from a neuron whose cell body resides in the peripheral nervous system. The axon carries action potential from the cell body towards target cells.


IPAF inflammasome complex

An inflammasome complex that consists of three components, IPAF, NAIP and caspase-1, and includes among its functions the sensing of flagellin derived from Legionella pneumophila, Salmonella typhimurium, Pseudomonas aeruginosa and Shigella flexneri.


Dalfopristin

A macrolide that is pristinamycin IIA in which the double bond between positions 26 and 26a of the pyrroline ring has been reduced and position 26R carries a [2-(diethylamino)ethyl]sulfonyl group. It is a semi-synthetic streptogramin antibiotic and often used as a mixture with quinupristin for the treatment of vancomycin-resistant Enterococcus faecium.


Parkin-FBXW7-Cul1 ubiquitin ligase complex

A ubiquitin ligase complex containing Parkin (PARK2), the F-box protein FBXW7 (also called SEL-10) and a cullin from the Cul1 subfamily; substrate specificity is conferred by the F-box protein.


glycine betaine metabolic process

The chemical reactions and pathways involving glycine betaine, N-trimethylglycine.


Perforation of ileum

A rupture in the ileal wall due to traumatic or a pathologic processes.


Catalysis of the reaction: D-glucuronyl-1,3-beta-D-galactosylproteoglycan + UDP-N-acetylgalactosamine = N-acetyl-D-galactosaminyl-1,4-beta-D-glucuronyl-1,3-beta-D-galactosylproteoglycan + UDP.


cardiac right atrium morphogenesis

The process in which the right cardiac atrium is generated and organized.


regulation of microglial cell migration

Any process that modulates the frequency, rate or extent of microglial cell migration.


Decreased mean corpuscular volume

A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).


Menopausal syndrome

A grouping of variable physical, vasomotor and psychological symptoms in climacteric females. Physical symptoms include: cessation of menses, headaches, fatigue, weight gain and vaginal dryness. Vasomotor symptoms typically include: palpitations, hot flashes and night sweats. Psychological symptoms may include: decrease in libido, emotional lability, difficulty concentrating and insomnia.


regulation of planar cell polarity pathway involved in axis elongation

Any process that modulates the frequency, rate or extent of planar cell polarity pathway involved in axis elongation.


interleukin-1, type II, blocking receptor activity

Combining with interleukin-1 to initiate a change in cell activity by inhibiting the activity of type I interleukin receptors.


nuclear matrix organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear matrix, the dense fibrillar network lying on the inner side of the nuclear membrane.


regulation of ATF6-mediated unfolded protein response

Any process that modulates the frequency, rate or extent of the ATF6-mediated unfolded protein response.


creatine biosynthetic process

The chemical reactions and pathways resulting in the formation of creatine, N-[amino(imino)methyl]-N-methylglycine. Creatine is formed by a process beginning with amidino group transfer from L-arginine to glycine to form guanidinoacetate, followed by methyl group transfer from S-adenosyl-L-methionine to guanidinoacetate; it is then is phosphorylated to form a pool that stores high energy phosphate for the replenishment of ATP during periods of high, or fluctuating energy demand. In animals, most creatine is transported to and used in muscle.


malignant tumor of nasopharynx

A cancer that involves the nasopharynx.


Prolonged neonatal jaundice

Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.


regulation of chronic inflammatory response to non-antigenic stimulus

Any process that modulates the frequency, rate, or extent of a chronic inflammatory response to a non-antigenic stimulus.


essential tremor

A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)


high-density lipoprotein particle receptor activity

Combining with a high-density lipoprotein particle and delivering the high-density lipoprotein into the cell via endocytosis.


creatine transmembrane transport

The directed movement of creatine across a membrane.


planar cell polarity pathway involved in heart morphogenesis

The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity that contributes to the shaping of the heart.


negative regulation of TORC1 signaling

Any process that stops, prevents or reduces the frequency, rate or extent of TORC1 signaling.


hepoxilin A3 synthase activity

Catalysis of the reaction: 12S-5Z,8Z,10E,14Z-12-hydro(pero)xy-eicosa-5,8,10,14-tetraenoic acid = (5Z,9E,14Z)-(8,11R,12S)-11,12-epoxy-8-hydroxyicosa-5,9,14-trienoate. 12S-5Z,8Z,10E,14Z-12-hydro(pero)xy-eicosa-5,8,10,14-tetraenoic acid is also known as 12S-HpETE, and (5Z,9E,14Z)-(8,11R,12S)-11,12-epoxy-8-hydroxyicosa-5,9,14-trienoate as hepoxilin A3.


Hemorrhagic ovarian cyst

An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.


sensitization

An increased in a behavioral response to a repeated stimulus. For example, a shock to the tail of the marine snail Aplysia, to which the snail responds by withdrawing its gill, will result in increased gill withdrawal the next time the skin is touched.


CD4 Lymphocytes Decreased

A laboratory test result which indicates decreased levels of CD4 lymphocytes in a biospecimen.


endothelial tip cell fate specification

The process involved in the specification of identity of an endothelial tip cell. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment. An endothelial tip cell is a specialized endothelial cell localized to the leading edge of an angiogenic sprout that senses extracellular signals and guides the directed growth of blood vessels.


L-lysine transmembrane transporter activity

Enables the transfer of L-lysine from one side of a membrane to the other. L-lysine is 2,6-diaminohexanoic acid.


Status epilepticus without prominent motor symptoms

There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.


amidine-lyase activity

Catalysis of the release of amides or amidines by the cleavage of a carbon-nitrogen bond or the reverse reaction with an amide or amidine as a substrate.


myosin II heavy chain binding

Binding to a heavy chain of a myosin II complex.


systemic mycosis

A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system.


generation of ovulation cycle rhythm

The process which controls the timing of the type of sexual cycle seen in female mammals.


regulation of transferrin receptor binding

Any process that modulates the frequency, rate or extent of transferrin receptor binding.


calcitonin gene-related peptide receptor activity

Combining with a calcitonin gene-related polypeptide (CGRP) to initiate a change in cell activity.


regulation of arginine metabolic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving arginine, 2-amino-5-(carbamimidamido)pentanoic acid.


oculomotor nerve development

The process whose specific outcome is the progression of the oculomotor nerve over time, from its formation to the mature structure. This motor nerve innervates all extraocular muscles except the superior oblique and the lateral rectus muscles. The superior division supplies the levator palpebrae superioris and superior rectus muscles. The inferior division supplies the medial rectus, inferior rectus and inferior oblique muscles. This nerve also innervates the striated muscles of the eyelid. Pupillary constriction and lens movement are mediated by this nerve for near vision. In the orbit the inferior division sends branches that enter the ciliary ganglion where they form functional contacts (synapses) with the ganglion cells. The ganglion cells send nerve fibers into the back of the eye where they travel to ultimately innervate the ciliary muscle and the constrictor pupillae muscle.


Neonatal respiratory system disorder

A respiratory system disorder that occurs during the neonatal period. A representative example is the respiratory distress syndrome.


cytoplasmic side of lysosomal membrane

The side (leaflet) of the lysosomal membrane that faces the cytoplasm.


mycosis fungoides

Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.


Catalysis of the reaction: corticosterone + reduced adrenal ferredoxin + O2 = 18-hydroxycorticosterone + oxidized adrenal ferredoxin + H2O.


Iron binding capacity total measurement

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eosinophil activation

The change in morphology and behavior of a eosinophil resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.


meiotic recombination checkpoint signaling

A signaling process that contributes to a meiotic recombination checkpoint, that acts during late prophase I (pachytene) and prevents segregation of homologous chromosomes until recombination is completed, ensuring proper distribution of the genetic material to the gametes.


round window of inner ear

The opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; serves to regulate fluid pressure in the inner ear.


eosinophilic granulomatosis with polyangiitis

Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.


uroporphyrinogen-III synthase activity

Catalysis of the reaction: hydroxymethylbilane = H2O + uroporphyrinogen III.


myofascial pain syndrome

Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome.


chromosomal disorder

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)


succinate-CoA ligase (ADP-forming) activity

Catalysis of the reaction: ATP + succinate + CoA = ADP + succinyl-CoA + phosphate.


chemokine (C-C motif) ligand 11 production

The appearance of chemokine (C-C motif) ligand 11 (CCL11, also known as eotaxin-1) due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.


regulation of glial cell-derived neurotrophic factor production

Any process that modulates the frequency, rate or extent of glial cell-derived neurotrophic factor production.


adrenal cortex formation

The process that gives rise to the adrenal cortex. This process pertains to the initial formation of a structure from unspecified parts. The adrenogonadal primordium from which the adrenal cortex is formed derives from a condensation of coelomic epithelial cells (the urogenital ridge; the same structure from which gonads and kidney also originate).


calcium-mediated signaling using extracellular calcium source

The series of molecular signals in which a cell uses calcium ions imported from an extracellular source to convert a signal into a response.


negative regulation of protein K48-linked deubiquitination

Any process that stops, prevents or reduces the frequency, rate or extent of protein K48-linked deubiquitination.


deoxycytidine kinase activity

Catalysis of the reaction: NTP + deoxycytidine = NDP + CMP.


inter-male aggressive behavior

Aggressive behavior based on competition between males of the same species over access to resources such as females, dominance, status, etc. and characterized by noise, threats, and is often less injurious.


scrotal disorder

A disease or disorder that involves the scrotum.


opsin binding

Binding to an opsin, any of a group of hydrophobic, integral membrane glycoproteins located primarily in the disc membrane of rods or cones, involved in photoreception.


Platelet aggregation increased (finding)


olfactory nerve development

The process whose specific outcome is the progression of the olfactory nerve over time, from its formation to the mature structure. The olfactory nerve is a collection of sensory nerve rootlets that extend down from the olfactory bulb to the olfactory mucosa of the upper parts of the nasal cavity. This nerve conducts odor information to the brainstem.


chemokine (C-X-C motif) ligand 2 production

The appearance of chemokine (C-X-C motif) ligand 2 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.


assembly of large subunit precursor of preribosome

The aggregation, arrangement and bonding together of a set of components to form the large subunit precursor of the preribosome.


idiopathic acute eosinophilic pneumonia

Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.


intein-mediated protein splicing

The removal of an internal amino acid sequence (an intein) from a protein during protein maturation; the excision of inteins is precise and the N- and C-terminal exteins are joined by a normal peptide bond. Protein splicing involves 4 nucleophilic displacements by the 3 conserved splice junction residues.


xanthomatosis

A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.


Titubation

Nodding movement of the head or body.


Pelvic abscess

An abscess that is located in the pelvic cavity.


polynucleotide 5'-phosphatase activity

Catalysis of the reaction: 5'-phosphopolynucleotide + H2O = polynucleotide + phosphate.


regulation of amino acid uptake involved in synaptic transmission

Any process that modulates the frequency, rate or extent of the directed movement of amino acid neurotransmitters into a neuron or glial cell.


regulation of centromere complex assembly

Any process that modulates the rate, frequency, or extent of centromere complex assembly, the aggregation, arrangement and bonding together of proteins and centromeric DNA molecules to form a centromeric protein-DNA complex.


mastocytosis

A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.


Abnormal PAP Smear

A finding indicating the presence of abnormal cervical cells in a Pap smear.


vitamin-K-epoxide reductase (warfarin-sensitive) activity

Catalysis of the reaction: phylloquinol + a protein with a disulfide bond = phylloquinone + a protein with reduced L-cysteine residues.


hidradenitis

An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland.


Diskitis

Inflammation of an intervertebral disc or disk space.


single-stranded DNA 5'-3' DNA exonuclease activity

Catalysis of the sequential cleavage of nucleotides (such as mononucleotides or dinucleotides) from a free 5' terminus of a single-stranded DNA molecule.


pyrimidine deoxyribonucleoside diphosphate metabolic process

The chemical reactions and pathways involving pyrimidine deoxynucleoside diphosphate, a compound consisting of a pyrimidine base linked to a deoxyribose sugar esterified with diphosphate on the sugar.


malate dehydrogenase (decarboxylating) (NADP+) activity

Catalysis of the reaction: (S)-malate + NADP+ = pyruvate + CO2 + NADPH + H+.


hyperammonemia due to N-acetylglutamate synthase deficiency

N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.


negative regulation of maintenance of sister chromatid cohesion

Any process that decreases the extent to which the association between sister chromatids of a replicated chromosome is maintained.


leukoplakia

A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.


phospholipase C-activating G protein-coupled glutamate receptor signaling pathway

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


Ileal ulcer

An erosion of the mucous membrane in a portion of the ileum.


spinal cord motor neuron migration

The orderly movement of a spinal cord motor neuron from one site to another. A spinal cord motor neuron is a motor neuron that passes from the spinal cord toward or to a muscle and conducts an impulse that causes movement.


O-glycan processing, core 1

The stepwise addition of carbohydrate or carbohydrate derivative residues to the initially added O-linked residue (usually GalNAc) to form the core 1 O-glycan structure, Gal-beta-(1->3)-GalNAc.


Unspecified abortion incomplete

The uterus is not entirely emptied of products of conception following spontaneous, medical or operative pregnancy termination.


tyrosyl-tRNA aminoacylation

The process of coupling tyrosine to tyrosyl-tRNA, catalyzed by tyrosyl-tRNA synthetase. The tyrosyl-tRNA synthetase is a class-I synthetase. The activated amino acid is transferred to the 2'-OH group of a tyrosine-accetping tRNA. The 2'-O-aminoacyl-tRNA will ultimately migrate to the 3' position via transesterification.


Retinal atrophy

Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.


secondary hypertension

High blood pressure caused by an underlying medical condition.


semicircular canal formation

The developmental process pertaining to the initial formation of the semicircular canal from the otic vesicle. This process begins with the regionalization of the vesicle that specifies the area where the vesicles will form and continues through the process of fusion which forms the initial tubes.


epiglottitis

Inflammation of the epiglottis.


Twins, Conjoined

A monoamniotic twin gestation in which the twins share one or more organs.


bone inflammation disease

Inflammation of the bone.


cis assembly of pre-catalytic spliceosome

Assembly of a spliceosomal complex containing the intact pre-mRNA and all of the spliceosomal snRNPs. This occurs when the tri-snRNP associates with the pre-mRNA and associated snRNPs in an ATP-dependent manner.


glial cell fate determination

The cell fate determination process in which a cell becomes capable of differentiating autonomously into a glial cell regardless of its environment; upon determination, the cell fate cannot be reversed.


positive regulation of macrophage colony-stimulating factor production

Any process that activates or increases the frequency, rate or extent of macrophage colony-stimulating factor production.


Incoherent

Unintelligibility of verbal or written communication due to a lack of clarity or connectedness.


division septum assembly

The assembly and arrangement of a septum that spans the plasma membrane interface between progeny cells following cytokinesis. The progeny cells that form a division septum are not able to exchange intracellular material.


umbilical cord development

The process whose specific outcome is the development of the umbilical cord, from its formation to the mature structure. The umbilical cord is an organ or embryonic origin consisting of the 2 umbilical arteries and the one umbilical vein. The umbilical cord connects the cardiovascular system of the fetus to the mother via the placenta.


behavioral response to starvation

Any process that results in a change in the behavior of an organism as a result of deprivation of nourishment.


Dystrophic Calcification

Calcium deposits in  degenerated or necrotic tissue without abnormalities in blood calcium.


regulation of nucleoside transport

Any process that modulates the frequency, rate or extent of the directed movement of a nucleoside into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


congenital anomalies of kidney and urinary tract 2

Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.


regulation of actin filament severing

Any process that modulates the frequency, rate or extent of actin filament severing.


alpha-tubulin acetylation

The addition of an acetyl group to the lysine 40 residue of alpha-tubulin.


chronic pancreatitis

A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.


glyoxylate catabolic process

The chemical reactions and pathways resulting in the breakdown of glyoxylate, the anion of glyoxylic acid, HOC-COOH.


autolysosome

A type of secondary lysosome in which a primary lysosome has fused with the outer membrane of an autophagosome. It is involved in the second step of autophagy in which it degrades contents with acidic lysosomal hydrolases.


Catalysis of the reaction: N-terminal L-glutaminyl-[peptide] = N-terminal 5-oxo-L-prolyl-[peptide] + NH4+.


coronary vein morphogenesis

The process in which the anatomical structures of veins of the heart are generated and organized.


positive regulation of nucleotide-binding oligomerization domain containing signaling pathway

Any process that activates or increases the frequency, rate, or extent of the nucleotide-binding oligomerization domain containing (NOD) pathway.


Inability to walk

Incapability to ambulate.


Tooth Loss

One or more teeth lost/dislodged from the mouth.


regulation of hair follicle cell proliferation

Any process that modulates the frequency, rate or extent of hair follicle cell proliferation.


Impaired judgement

Reduced ability to plan, poor decision making.


DNA-dependent protein kinase-DNA ligase 4 complex

A large protein complex which is involved in the repair of DNA double-strand breaks and, in mammals, V(D)J recombination events. It consists of the DNA-dependent protein kinase catalytic subunit (DNA-PKcs), the DNA end-binding heterodimer Ku, the nuclear phosphoprotein XRCC4 or a homolog thereof, and DNA ligase IV.


subpallium neuron fate commitment

The process in which in the subpallium, the developmental fate of a cell becomes restricted such that it will develop into a neuron. The subpallium is the base region of the telencephalon.


Epidural Hematoma

A collection of blood into the space between the dura mater and the skull.


leukotriene B4 receptor activity

Combining with leukotriene B4, LTB4, to initiate a change in cell activity. Leukotriene B4 is also known as (6Z, 8E, 10E, 14Z)-(5S, 12R)-5,12-dihydroxyicosa-6,8,10,14-tetraen-1-oate.


Hydroureter

The distention of the ureter with urine.


regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation

Any process that modulates the rate, frequency, or extent of eIF2 alpha phosphorylation as a cellular response to endoplasmic reticulum stress.


otitis media with effusion

Otitis media associated with accumulation of fluid in the middle ear.


modulation by symbiont of host defense response

Any process in which an organism modulates the frequency, rate or extent of the defense response of its host, the response mounted by the host in response to the presence of the organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.


response to methyl methanesulfonate

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 methyl methanesulfonate (MMS) stimulus.


neural tube defect

A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.


Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.


Dull Chest Pain

The sensation of chest pain described as a mild or blunted discomfort.


portal hypertension

Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly.


Burning mouth

An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.


Catalysis of the reaction: a ubiquinone + reduced [electron-transfer flavoprotein] = a ubiquinol + H+ + oxidized [electron-transfer flavoprotein].


diadenosine tetraphosphate biosynthetic process

The chemical reactions and pathways resulting in the formation of diadenosine tetraphosphate, a derivative of the nucleoside adenosine with four phosphate groups attached.


Hemeralopia

A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.


brain infarction

Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.


Wasting Syndrome

Pathologic loss of more than 10% of body weight concurrent with 30 or more days of either diarrhea or weakness and fever.


Hemophagocytosis

Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.


Exhaustion

A state in which an entity is functionally inept and incapable of exhibiting the usual array of activities.


Arteriovenous fistula thrombosis

Partial or complete occlusion of the lumen within an arteriovenous fistula by a thrombus.


hypochondriasis

A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis.


positive regulation of behavioral fear response

Any process that activates or increases the frequency, rate or extent of behavioral fear response.


endosome to lysosome transport via multivesicular body sorting pathway

The directed movement of substances from endosomes to lysosomes by a pathway in which molecules are sorted into multivesicular bodies, which then fuse with the lysosome.


A monoterpenoid indole alkaloid that consists of ajmalan substituted at positions 17 and 21 by hydroxy groups.


response to stem cell factor

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 stem cell factor (SCF) stimulus.


single guanine insertion binding

Binding to a double-stranded DNA region containing a single guanine insertion or a deletion that results in an unpaired guanine.


Deviation of finger

Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.


thiol oxidase activity

Catalysis of the reaction: 2 R'C(R)SH + O2 = R'C(R)S-S(R)CR' + 2 H2O2.


discoidal high-density lipoprotein particle

A newly formed high-density lipoprotein particle; consists of a phospholipid bilayer surrounded by two or more APOA1 molecules. The discoidal HDL particle is formed when lipid-free or lipid-poor APOA1 acquires phospholipids and unesterified cholesterol from either cell membranes or triglyceride-rich lipoproteins (undergoing lipolysis by lipoprotein lipase).


type 3 melanocortin receptor binding

Binding to a type 3 melanocortin receptor.


carnitine biosynthetic process

The chemical reactions and pathways resulting in the formation of carnitine (hydroxy-trimethyl aminobutyric acid), a compound that participates in the transfer of acyl groups across the inner mitochondrial membrane.


negative regulation of retinal ganglion cell axon guidance

Any process that decreases the frequency, rate, or extent of retinal ganglion cell axon guidance, the process in which the migration of an axon growth cone of a retinal ganglion cell (RGC) is directed to its target in the brain in response to a combination of attractive and repulsive cues.


Fibrinogen Decreased

A laboratory test result which indicates decreased levels of fibrinogen in a biological specimen.


ciliary neurotrophic factor receptor complex

A protein complex that acts as a receptor for the cytokine ciliary neurotrophic factor (CNTF). In humans the receptor complex is a hexamer composed of two molecules each of CNTF and CNTFR and one molecule each of gp130 and LIFR.


mediolateral intercalation

The interdigitation of cells along the mediolateral axis during gastrulation.


serum response element binding

Binding to a serum response element (SRE), a short sequence with dyad symmetry found in the promoters of some of the cellular immediate-early genes, regulated by serum.


metanephric proximal tubule development

The process whose specific outcome is the progression of the metanephric proximal tubule over time, from its formation to the mature structure. The metanephric proximal tubule is a metanephric nephron tubule that connects Bowman's capsule to the descending thin limb of the loop of Henle in the metanephros. It has a brush border epithelial morphology.


histamine metabolic process

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


Oversedated

A level of sedation that is greater than the intended level.


nuclear migration along microfilament

The directed movement of the nucleus along microfilaments within the cell, mediated by motor proteins.


negative regulation by virus of viral protein levels in host cell

Any process where the infecting virus reduces the levels of viral proteins in a cell.


neurotrophin production

The appearance of a neurotrophin due to biosynthesis or secretion by cells in a neuron's target field, resulting in an increase in its intracellular or extracellular levels. A neurotrophin is any of a family of growth factors that prevent apoptosis in neurons and promote nerve growth.


L-ascorbic acid transmembrane transporter activity

Enables the transfer of L-ascorbate from one side of a membrane to the other. L-ascorbate, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate, is vitamin C and has co-factor and anti-oxidant activities in many species.


response to rapamycin

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 rapamycin stimulus.


Physical wandering

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


medium-chain fatty acid transport

The directed movement of a medium-chain fatty acid into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A medium-chain fatty acid is a fatty acid with an aliphatic tail of 6 to 12 carbons.


leading edge cell differentiation

The process in which relatively unspecialized cells acquire specialized structural and/or functional features of leading edge cells, cells at the front of a migrating epithelial sheet.


oxidative phosphorylation uncoupler activity

Enables the transfer of protons from mitochondrial intermembrane space into mitochondrial matrix, dissipating the proton gradient across the mitochondrial inner membrane established by the electron transport chain during the oxidative phosphorylation (proton leak). Proton leak uncouples the processes of electron transport/proton generation and ATP synthesis.


Urine electrolytes outside reference range


PCSK9-LDLR complex

A protein complex consisting of the serine protease PCSK9 (proprotein convertase subtilisin/kexin-9) and a low-density lipoprotein receptor (LDLR). Interaction typically occurs through the epidermal growth factor-like repeat A (EGF-A) domain of the LDLR, and complex formation promotes degradation of the LDLR through the endosome/lysosome pathway.


ADP-ribosylarginine hydrolase activity

Catalysis of the reaction: N2-(ADP-D-ribosyl)-L-arginine + H2O = L-arginine + ADP-ribose.


sequestering of iron ion

The process of binding or confining iron ions such that they are separated from other components of a biological system.


arginase activity

Catalysis of the reaction: L-arginine + H2O = L-ornithine + urea.


interleukin-1, type II receptor binding

Binding to a Type II interleukin-1 receptor.


oxidoreductase activity, acting on CH or CH2 groups, disulfide as acceptor

Catalysis of an oxidation-reduction (redox) reaction in which a CH2 group acts as a hydrogen or electron donor and reduces a disulfide group.


metanephric mesangial cell differentiation

The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesangial cells of the metanephros as it progresses from its formation to the mature state.


autoimmune thrombocytopenia

An autoimmune form of thrombocytopenia.


Low APGAR score

An Apgar score less than seven.


reversible cerebral vasoconstriction syndrome

Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.


G protein-coupled UTP receptor activity

Combining with a nucleotide and transmitting the signal to a heterotrimeric G-protein complex to initiate a change in cell activity, activated by UTP.


ciliary basal body organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a ciliary basal body, a short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum).


wybutosine biosynthetic process

The chemical reactions and pathways resulting in the formation of wybutosine, 3H-imidazo[1,2-alpha]purine-7-butanoic acid, 4,9-dihydro- alpha-[(methoxycarbonyl)amino]- 4,6-dimethyl-9-oxo- 3-beta-D-ribofuranosyl methyl ester, a modified nucleoside found in some tRNA molecules.


positive regulation of glial cell-derived neurotrophic factor production

Any process that activates or increases the frequency, rate or extent of glial cell-derived neurotrophic factor production.


Purkinje myocyte action potential

An action potential that occurs in a Purkinje myocyte.


renal osteodystrophy

Abnormalities of bone mineral metabolism associated with chronic kidney disease.


protein depalmitoylation

The removal of palymitoyl groups from a lipoprotein.


mitral valve disorder

A disease involving the mitral valve.


Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli.


positive regulation of integrin biosynthetic process

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


Marginal ulcer

An ulcer that develops in the jejunal mucosa close to the anastomosis site following a gastroenterostomy procedure.


neonatal anemia

The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.


negative regulation of phospholipase C activity

Any process that stops, prevents or reduces the frequency, rate or extent of phospholipase C activity.