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.


Gait, Festinating

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


regulation of apoptotic process in bone marrow cell

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

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.


Attention impaired

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


G protein-coupled receptor dimeric complex

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

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

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

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

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

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

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


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.


crystal 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.


Oscillopsia

A visual disturbance in which objects in the visual field appear to oscillate (jump, jiggle, vibrate).


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.


Total iron binding capacity measurement

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


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

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

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.


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 domain, leucine rich repeat containing receptor signaling pathway

Any process that activates or increases the frequency, rate, or extent of a nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (NLR) 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.


symbiont-mediated perturbation of host defense response

A process in which a symbiont interferes with the ability of the host to mount a defense in response to its presence. 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.


ajmaline

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: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 has an aliphatic tail containing 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.


Cytomegalovirus hepatitis

Hepatitis secondary to viral infection with cytomegalovirus.


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.


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.


chronic otitis media

Chronic form of otitis media (disease).


congenital hydronephrosis

Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.


cryptorchidism

The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.


negative regulation of post-transcriptional gene silencing by regulatory ncRNA

Any process that stops, prevents or reduces the frequency, rate or extent of post-transcriptional gene silencing by RNA.


aggrephagy

The selective degradation of protein aggregates by macroautophagy.


prostate intraepithelial neoplasia

A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.


neurogenic arthropathy

Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)


schizoaffective disorder

A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.


lymphoid leukemia

A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.


listeriosis

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


serotonin production involved in inflammatory response

The synthesis or release of serotonin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels.


cellular response to hydrostatic pressure

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrostatic pressure stimulus. Hydrostatic pressure is the force acting on an object in a system where the fluid is at rest (as opposed to moving). The weight of the fluid above the object creates pressure on it.


acetate ester biosynthetic process

The chemical reactions and pathways resulting in the formation of an acetate esteran acetate ester, any carboxylic ester where the carboxylic acid component is acetic acid.


Poikilocytosis

The presence of abnormally shaped erythrocytes.


inflammation of heart layer

An inflammatory disease involving a pathogenic inflammatory response in the heart layer.


dissociative disorder

A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment.


dolichol biosynthetic process

The chemical reactions and pathways resulting in the formation of dolichols, any 2,3-dihydropolyprenol derived from four or more linked isoprene units.


Abnormal posturing

Involuntary flexion or extension of the arms and legs.


positive regulation of lymphangiogenesis

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


Cerebral venous sinus thrombosis

An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses.


mitotic spindle astral microtubule

Any of the mitotic spindle microtubules that radiate in all directions from the spindle poles and are thought to contribute to the forces that separate the poles and position them in relation to the rest of the cell.


negative regulation of mitochondrial membrane permeability involved in apoptotic process

Any negative regulation of mitochondrial membrane permeability that is involved in apoptotic process.


Hypertensive episode

An episode of elevated blood pressure.


Central scotoma

An area of depressed vision located at the point of fixation and that interferes with central vision.


ABC-type sterol transporter activity

Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + sterol(in) = ADP + phosphate + sterol(out).


tyrosine binding

Binding to 2-amino-3-(4-hydroxyphenyl)propanoic acid.


atrophic rhinitis

A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).


stapes bone

The stapes or stirrup is the stirrup-shaped small bone or ossicle in the middle ear which is attached to the incus laterally and to the fenestra ovalis, the 'oval window' medially. The oval window is adjacent to the vestibule of the inner ear. The stapes is the smallest and lightest bone in the human body. The stapes transmits the sound vibrations from the incus to the membrane of the inner ear inside the fenestra ovalis. The stapes is also stabilized by the stapedius muscle, which is innervated by the facial nerve. In non-mammalian vertebrates, the bone homologous to the stapes is usually called the columella; however, in reptiles, either term may be used[WP,unvetted].


modulation by host of viral molecular function

A process in which a host organism modulates the frequency, rate or extent of any molecular function being mediated by a virus with which it is infected.


oocyte axis specification

The establishment, maintenance and elaboration of an axis in the oocyte. An example of this is found in Drosophila melanogaster.


response to metformin

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 metformin stimulus.


histone H3T3 kinase activity

Catalysis of the reaction: histone H3-threonine (position 3) + ATP = histone H3-phosphothreonine (position 3) + ADP. This reaction is the addition of a phosphate group to the threonine residue at position 3 of histone H3.


directional locomotion

Self-propelled movement of a cell or organism from one location to another along an axis.


purine deoxyribonucleotide binding

Binding to a purine deoxyribonucleotide, any compound consisting of a purine deoxyribonucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the deoxyribose moiety.


hemophagocytic syndrome

Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).


pulmonary alveolar proteinosis

A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever.


negative regulation of spontaneous neurotransmitter secretion

Any process that stops, prevents or reduces the frequency, rate or extent of spontaneous neurotransmitter secretion.


Cardiac amyloidosis

Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.


regulation of skeletal muscle contraction by chemo-mechanical energy conversion

Any process that modulates the frequency, rate or extent of skeletal muscle contraction by regulating force and velocity of shortening. The force of skeletal muscle contraction is produced by acto-myosin interaction processes through formation of cross bridges. The shortening leads to reduction of length of muscle fiber and sarcomeres.


positive regulation of attachment of spindle microtubules to kinetochore

Any process that activates or increases the frequency, rate or extent of the attachment of spindle microtubules to the kinetochore.


sinoatrial node cell development

The process whose specific outcome is the progression of a sinoatrial (SA) node cell over time, from its formation to the mature state. SA node cells are pacemaker cells that are found in the sinoatrial node.


adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process

The series of molecular signals beginning with a G protein-coupled adrenergic cell surface receptor combining with epinephrine or norepinephrine, to activate adenylate cyclase, which contributes to a circulatory system process carried out by the heart.


positive regulation of hydrogen peroxide metabolic process

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


cellular response to progesterone stimulus

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


negative regulation of planar cell polarity pathway involved in axis elongation

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


Hepatic cysts

A cystic lesion located in the liver.


RSF complex

An ISWI complex that contains an ATPase subunit of the ISWI family (SNF2H in mammals) and an RSF1 homolog. It mediates nucleosome deposition and generates regularly spaced nucleosome arrays. In mammals, RSF is involved in regulation of transcription from RNA polymerase II promoters).


acetylcholine transmembrane transporter activity

Enables the transfer of acetylcholine from one side of a membrane to the other. 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.


response to interleukin-8

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 an interleukin-8 stimulus.


nitrate reductase activity

Catalysis of the reaction: nitrite + acceptor = nitrate + reduced acceptor.


mixed connective tissue disease

Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.


nuclear-transcribed mRNA catabolic process, RNase MRP-dependent

A minor MRP-dependent nuclear-transcribed mRNA degradation pathway that begins with an endonucleolytic cleavage to generate unprotected ends.


Catalysis of the hydrolysis of poly(ADP-ribose) at glycosidic (1''-2') linkage of ribose-ribose bond to produce free ADP-ribose.


trichomonal vulvovaginitis

An vulvovaginitis caused by infection with Trichomonas vaginalis.


prostaglandin-D synthase activity

Catalysis of the reaction: prostaglandin H(2) = prostaglandin D(2).


ectodermal digestive tract development

The process whose specific outcome is the progression of the ectodermal digestive tract over time, from its formation to the mature structure. The ectodermal digestive tract includes those portions that are derived from ectoderm.


AMP salvage

The chemical reactions and pathways resulting in the formation of adenosine monophosphate (AMP) from derivatives of it (either adenine, ADP or adenosine 3',5'-bisphosphate) without de novo synthesis.


iron incorporation into metallo-sulfur cluster

The incorporation of iron into a metallo-sulfur cluster.


Catalysis of the reaction: ATP + 1-phosphatidyl-1D-myo-inositol 5-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.


negative regulation of complement activation, alternative pathway

Any process that stops, prevents, or reduces the frequency, rate or extent of complement activation by the alternative pathway.


first spliceosomal transesterification activity

Catalysis of the first transesterification reaction of spliceosomal mRNA splicing. The intron branch site adenosine is the nucleophile attacking the 5' splice site, resulting in cleavage at this position. In cis splicing, this is the step that forms a lariat structure of the intron RNA, while it is still joined to the 3' exon.


cytosine C-5 DNA demethylase activity

Catalysis of the reaction: methyl-dCpdG DNA + H2O = dCpdG DNA + methanol. This reaction is the hydrolytic removal of the methyl group on the 5 position of cytosine in DNA.


lens placode formation involved in camera-type eye formation

Establishment and formation of the optic placode, paired ectodermal placodes that become invaginated to form the embryonic lens vesicles.


Food Interactions

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


negative regulation of hydrogen peroxide catabolic process

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


Palilalia

Repetition of one's own words or phrases is a common occurrence.


Pneumatosis intestinalis

The presence of gas within the wall of the large or small intestine.


platelet-activating factor acetyltransferase activity

Catalysis of the reaction: 1-radyl-2-acyl-sn-glycero-3-phospholipid + 1-alkyl-2-acetyl-sn-glycero-3-phosphocholine = 1-alkyl-2-lyso-sn-glycero-3-phosphocholine + 1-radyl-2-acetyl-sn-glycero-3-phospholipid.


positive regulation of transforming growth factor beta2 production

Any process that activates or increases the frequency, rate, or extent of production of transforming growth factor-beta2.


pterygium

A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder.


growth cone filopodium

A thin, stiff protrusion extended by the leading edge of an axonal or dendritic growth cone.


pattern specification involved in pronephros development

Any developmental process that results in the creation of defined areas or spaces within the pronephros to which cells respond and eventually are instructed to differentiate.


T-helper 1 cell lineage commitment

The process in which a CD4-positive, alpha-beta T cell becomes committed to becoming a T-helper 1 cell, a CD4-positive, alpha-beta T cell specialized to promote immunological processes often associated with resistance to intracellular bacteria, fungi, and protozoa, and pathological conditions such as arthritis.


negative regulation of mitochondrial DNA metabolic process

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


axonal neuropathy

Any nerve disorder affecting the axon of a nerve.


Malignant neoplasm aggravated

A malignant neoplasm that shows clinical and/or pathologic progression.


galactolipid catabolic process

The chemical reactions and pathways resulting in the breakdown of galactolipids, any glycolipid containing one of more residues of galactose and/or N-acetylgalactosamine.


cytolysis in another organism

The killing by an organism of a cell in another organism by means of the rupture of cell membranes and the loss of cytoplasm.


glutamate catabolic process to 2-oxoglutarate

The chemical reactions and pathways resulting in the breakdown of glutamate into other compounds, including 2-oxoglutarate.


blastocyst hatching

The hatching of the cellular blastocyst from the zona pellucida.


secondary hypertrophic osteoarthropathy

Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)


PTB domain binding

Binding to a phosphotyrosine-binding (PTB) Binding to a phosphotyrosine-bindin domain.


positive regulation of relaxation of muscle

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


histamine secretion involved in inflammatory response

The regulated release of histamine by a cell as part of an inflammatory response.


Ectopic atrial pacemaker

An electrocardiographic finding of a supraventricular arrhythmia characterized by 3 or more distinct P wave morphologies with an isoelectric baseline, variable PR intervals and no predominant atrial rhythm. The ventricular rate is typically below 100 beats per minute. (CDISC)


early myoclonic encephalopathy

Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.


Perinatal disorder

A non-neoplastic or neoplastic disorder occurring during the period from about five months before birth to one month after birth.


congenital glaucoma

A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.


medium-chain fatty acyl-CoA hydrolase activity

Catalysis of the reaction: a medium-chain fatty acyl-CoA + H2O = a medium-chain fatty acid + CoA + H+. A medium-chain fatty acid has an aliphatic tail containing 6 to 12 carbons.


regulation of eIF2 alpha phosphorylation by heme

Any process that modulates the rate, frequency, or extent of eIF2 alpha phosphorylation as a result of heme levels.


detection of mechanical stimulus involved in sensory perception of touch

The series of events involved in the perception of touch in which a mechanical stimulus is received and converted into a molecular signal.


autism spectrum disorder

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


regulation of peroxisome organization

Any process that modulates the frequency, rate or extent of peroxisome organization.


arcus senilis

A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.


Hepatitis C Virus Antibody Positive

An indication that antibodies that recognize the hepatitis C virus have been detected in a sample.


Ectromelia

A congenital defect characterized by the absence or hypoplasia of one or more extremities.


choriocarcinoma

An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.


hypertrophic cardiomyopathy 1

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.


RNA polymerase II sequence-specific DNA-binding transcription factor recruiting activity

The function of binding to a specific DNA sequence and recruiting another transcription factor to the DNA in order to modulate transcription. The recruited factor may bind DNA directly, or may be colocalized via protein-protein interactions.


prostate adenocarcinoma

A carcinoma that arises from glandular epithelial cells of the prostate gland


positive regulation of toll-like receptor 9 signaling pathway

Any process that activates or increases the frequency, rate, or extent of toll-like receptor 9 signaling pathway.


negative regulation of zinc ion transport

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of zinc ions (Zn2+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity

Catalysis of the reaction: [3-hydroxy-3-methylglutaryl-CoA reductase (NADPH)] + ATP = [3-hydroxy-3-methylglutaryl-CoA reductase (NADPH)] phosphate + ADP.


adenine metabolic process

The chemical reactions and pathways involving adenine, 6-aminopurine, one of the five main bases found in nucleic acids and a component of numerous important derivatives of its corresponding ribonucleoside, adenosine.


dyshidrosis

A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)


benign digestive system neoplasm

A non-metastasizing neoplasm arising from any part of the digestive system.


pyoderma gangrenosum

Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.


Pelvic hemorrhage

Bleeding within the pelvic cavity.


renovascular hypertension

High blood pressure secondary to renal artery stenosis.


metal incorporation into metallo-sulfur cluster

The formation of a cluster of several metal atoms, including iron, nickel, molybdenum, vanadium, or copper, with one or more bridging (mu-bond) sulfur atoms; amino acids residues in proteins that may ligate the metal sulfur cluster are cysteine, histidine, aspartate, glutamate, serine and cysteine persulfide.


Increased mean corpuscular volume

Larger than normal size of erythrocytes.


reelin receptor activity

Combining with the secreted glycoprotein reelin, and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.


Blood follicle stimulating hormone increased


carnitine transmembrane transporter activity

Enables the transfer of carnitine across a membrane. Carnitine is a compound that participates in the transfer of acyl groups across the inner mitochondrial membrane.


purine nucleoside bisphosphate catabolic process

The chemical reactions and pathways resulting in the breakdown of a purine nucleoside bisphosphate, a compound consisting of a purine base linked to a deoxyribose or ribose sugar esterified with one phosphate group attached to each of two different hydroxyl groups on the sugar.


tRNA import into mitochondrion

The process in which a tRNA is transported from the cytosol into the mitochondrial matrix.


positive regulation of hydrogen peroxide-mediated programmed cell death

Any process that activates or increases the frequency, rate or extent of hydrogen peroxide-mediated programmed cell death.


dihydroorotase activity

Catalysis of the reaction: (S)-dihydroorotate + H2O = N-carbamoyl-L-aspartate + H+.


oculomotor nerve formation

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


error-free postreplication DNA repair

The conversion of DNA-damage induced single-stranded gaps into large molecular weight DNA via processes such as template switching, which does not remove the replication-blocking lesions but does not increase the endogenous mutation rate.


5S rDNA binding

Binding to a 5S rDNA sequence, encoding ribosomal 5S rRNA, which is individually transcribed by RNA polymerase III, rather than by RNA polymerase I, in species where it exists.


BMP receptor complex

A protein complex that acts as a receptor for bone morphogenetic proteins (BMPs); a homo- or heterodimer of type I and/or type II BMP receptor subunits.


leukemia inhibitory factor signaling pathway

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


response to triacyl bacterial lipopeptide

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 triacylated bacterial lipopeptide stimulus.


corticospinal neuron axon guidance

The process in which the migration of an axon growth cone of a neuron that is part of the corticospinal tract is directed from the cerebral cortex layer V to the spinal cord dorsal funiculus in response to a combination of attractive and repulsive cues.


regulation of translational initiation by eIF2 alpha dephosphorylation

Any process that modulates the frequency, rate or extent of translation initiation in response to stress by the dephosphorylation of eIF2 alpha.


sudden infant death syndrome

Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene.


response to oxygen-glucose deprivation

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 the deprivation of oxygen and glucose.


malignant mesenchymoma

A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.


adrenomedullin receptor activity

Combining with adrenomedullin to initiate a change in cell activity.


Acidemia

An abnormally low blood pH (usually defined as less than 7.35).


plasma cell leukemia

An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.


positive regulation of gastro-intestinal system smooth muscle contraction

Any process that activates or increases the frequency, rate or extent of gastro-intestinal system smooth muscle contraction.


Ovarian Hemorrhage

Bleeding originating from the ovary.


pattern specification involved in mesonephros development

Any developmental process that results in the creation of defined areas or spaces within the mesonephros to which cells respond and eventually are instructed to differentiate.


congenital hemangioma

A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH).


pyrimidine nucleotide transmembrane transporter activity

Enables the transfer of a pyrimidine nucleotide, any compound consisting of a pyrimidine nucleoside esterified with (ortho)phosphate, from one side of a membrane to the other.


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

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


pulmonary aspergilloma

A aspergillosis that involves the lung.


diabetic retinopathy

A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness.


Metaplasia

Transformation of a mature, normal cell or groups of mature cells to other forms of mature cells.  The capacity for malignant transformation of metaplastic cells is a subject of controversy.


nitric oxide production involved in inflammatory response

The synthesis or release of nitric oxide following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels.


Abnormal Echocardiogram

A history of having had an abnormal echocardiogram.


Methicillin-resistant Staphylococcus aureus infection

Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.


aldonic acid metabolic process

The chemical reactions and pathways involving aldonic acid, a monocarboxylic acid with a chain of three or more carbon atoms, derived from an aldose by oxidation of the aldehydic group.


protein sialylation

A protein modification process that results in the addition of a sialic acid unit to the end of an oligosaccharide chain in a glycoprotein.


bulbo-urethral gland

Any of the small paired racemose glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; homologous to the greater vestibular (Bartholin's) glands in the female[MP].


methionine-tRNA ligase activity

Catalysis of the reaction: ATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met).


Dysdiadochokinesis

A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.


Partial thickness burn

An injury that includes the entire epidermis and upper layers of the dermis due to a chemical, friction, radiation or thermal exposure. The affected area appears as moist red or white skin that does not blanch. Often it is painful with the presence of blisters.


heme oxygenase (decyclizing) activity

Catalysis of the reaction: heme b + 3 O2 + 3 reduced [NADPH-hemoprotein reductase] = biliverdin + CO + Fe2+ + H+ + 3 H2O + 3 oxidized [NADPH-hemoprotein reductase].


cellular response to sorbitol

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


bullous lichen planus

Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions.


Pseudoaneurysm

A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.


positive regulation of androgen receptor activity

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


angioimmunoblastic T-cell lymphoma

A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive.


syphilis

A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system.


salmonellosis

Infections with bacteria of the genus salmonella.


transcription termination site sequence-specific DNA binding

Binding to a sequence of DNA that promotes termination by RNA polymerase. The transcribed region might be described as a gene, cistron, or operon.


epinephrine biosynthetic process

The chemical reactions and pathways resulting in the formation of epinephrine, a hormone produced by the medulla of the adrenal glands that increases heart activity, improves the power and prolongs the action of muscles, and increases the rate and depth of breathing. It is synthesized by the methylation of norepinephrine.


type I interferon binding

Binding to a type I interferon. Type I interferons include the interferon-alpha, beta, delta, epsilon, zeta, kappa, tau, and omega gene families.


demyelinating polyneuropathy

Polyneuropathy that is characterized by demyelination of axons.


inhalational anthrax

A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.


ectropion

The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)


incus bone

The incus or anvil is the anvil-shaped small bone or ossicle in the middle ear. It connects the malleus to the stapes. It was first described by Alessandro Achillin of Bologna. The incus transmits sound vibrations from the malleus to the stapes. The incus only exists in mammals, and is derived from a reptilian upper jaw bone, the quadrate bone. Embryologically it is derived from the first pharyngeal arch along with the rest of the bones of mastication, such as the maxilla and mandible. [WP,unvetted].


cellular response to molecule of fungal origin

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of fungal origin such as chito-octamer oligosaccharide.


Stenosis of intestine

Fibrosis of the wall of a segment of the intestine that leads to intestinal lumen narrowing.


voltage-gated sodium channel activity involved in Purkinje myocyte action potential

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


hypertrophic pyloric stenosis

An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.


hypogonadotropic hypogonadism

Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.


histone H3K9 deacetylase activity

Catalysis of the reaction: histone H3 N6-acetyl-L-lysine (position 9) + H2O = histone H3 L-lysine (position 9) + acetate. This reaction represents the removal of an acetyl group from lysine at position 9 of the histone H3 protein.


myelomeningocele

Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.