Physical wandering

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


medium-chain fatty acid transport

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

description: 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

description: 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.


name: oxidative phosphorylation uncoupler activity

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

description: 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.


Paresthesia of foot

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


name: Urine electrolytes outside reference range


PCSK9-LDLR complex

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

description: 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

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


sequestering of iron ion

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


Optic nerve cupping

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


arginase activity

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


interleukin-1, type II receptor binding

description: Binding to a Type II interleukin-1 receptor.


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

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


name: metanephric mesangial cell differentiation

description: 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

description: An autoimmune form of thrombocytopenia.


Low APGAR score

description: An Apgar score less than seven.


name: reversible cerebral vasoconstriction syndrome

description: 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

description: 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

description: 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

description: 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.


name: positive regulation of glial cell-derived neurotrophic factor production

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


Cytomegalovirus hepatitis

description: Hepatitis secondary to viral infection with cytomegalovirus.


Purkinje myocyte action potential

description: An action potential that occurs in a Purkinje myocyte.


renal osteodystrophy

description: Abnormalities of bone mineral metabolism associated with chronic kidney disease.


protein depalmitoylation

description: The removal of palymitoyl groups from a lipoprotein.


mitral valve disorder

description: A disease involving the mitral valve.


description: 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.


name: positive regulation of integrin biosynthetic process

description: 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

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


chronic otitis media

description: Chronic form of otitis media (disease).


congenital hydronephrosis

description: 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

description: 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.


name: negative regulation of post-transcriptional gene silencing by regulatory ncRNA

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


aggrephagy

description: The selective degradation of protein aggregates by macroautophagy.


prostate intraepithelial neoplasia

description: 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

description: 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

description: 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

description: 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.


Nipple tenderness

description: Pain or discomfort produced by touching the nipple.


listeriosis

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


name: serotonin production involved in inflammatory response

description: 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.


name: cellular response to hydrostatic pressure

description: 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

description: 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

description: The presence of abnormally shaped erythrocytes.


inflammation of heart layer

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


dissociative disorder

description: 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

description: 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

description: Involuntary flexion or extension of the arms and legs.


name: positive regulation of lymphangiogenesis

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


Cerebral venous sinus thrombosis

description: 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

description: 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.


name: negative regulation of mitochondrial membrane permeability involved in apoptotic process

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


Hypertensive episode

description: An episode of elevated blood pressure.


Central scotoma

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


ABC-type sterol transporter activity

description: 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).


L-tyrosine binding

description: Binding to L-tyrosine, 2-amino-3-(4-hydroxyphenyl)propanoic acid.


atrophic rhinitis

description: 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

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

description: 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].


name: modulation by host of viral molecular function

description: 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

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


response to metformin

description: 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

description: 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

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


purine deoxyribonucleotide binding

description: 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

description: 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

description: 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.


name: negative regulation of spontaneous neurotransmitter secretion

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


Cardiac amyloidosis

description: 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.


name: regulation of skeletal muscle contraction by chemo-mechanical energy conversion

description: 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.


name: positive regulation of attachment of spindle microtubules to kinetochore

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


sinoatrial node cell development

description: 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.


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

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

description: 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.


name: positive regulation of hydrogen peroxide metabolic process

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


name: cellular response to progesterone stimulus

description: 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.


name: negative regulation of planar cell polarity pathway involved in axis elongation

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


Hepatic cysts

description: A cystic lesion located in the liver.


RSF complex

description: 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).


name: acetylcholine transmembrane transporter activity

description: 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.


Fertilization

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


response to interleukin-8

description: 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

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


mixed connective tissue disease

description: 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.


name: nuclear-transcribed mRNA catabolic process, RNase MRP-dependent

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


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


trichomonal vulvovaginitis

description: An vulvovaginitis caused by infection with Trichomonas vaginalis.


prostaglandin-D synthase activity

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


ectodermal digestive tract development

description: 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

description: 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.


name: iron incorporation into metallo-sulfur cluster

description: The incorporation of iron into a metallo-sulfur cluster.


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


name: negative regulation of complement activation, alternative pathway

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


name: first spliceosomal transesterification activity

description: 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

description: 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.


name: lens placode formation involved in camera-type eye formation

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


Food Interactions

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


name: negative regulation of hydrogen peroxide catabolic process

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


Palilalia

description: Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed.


Pneumatosis intestinalis

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


name: platelet-activating factor acetyltransferase activity

description: 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.


name: positive regulation of transforming growth factor beta2 production

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


pterygium

description: 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

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


name: pattern specification involved in pronephros development

description: 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

description: 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.


name: negative regulation of mitochondrial DNA metabolic process

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


axonal neuropathy

description: Any nerve disorder affecting the axon of a nerve.


Malignant neoplasm aggravated

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


galactolipid catabolic process

description: 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

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


name: glutamate catabolic process to 2-oxoglutarate

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


blastocyst hatching

description: The hatching of the cellular blastocyst from the zona pellucida.


secondary hypertrophic osteoarthropathy

description: 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

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


name: positive regulation of relaxation of muscle

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


name: histamine secretion involved in inflammatory response

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


Ectopic atrial pacemaker

description: 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

description: 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

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


congenital glaucoma

description: 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.


name: medium-chain fatty acyl-CoA hydrolase activity

description: 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.


name: regulation of eIF2 alpha phosphorylation by heme

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


name: detection of mechanical stimulus involved in sensory perception of touch

description: 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

description: 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

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


arcus senilis

description: 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

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


Ectromelia

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


choriocarcinoma

description: 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

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


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

description: 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

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


name: positive regulation of toll-like receptor 9 signaling pathway

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


name: negative regulation of zinc ion transport

description: 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.


name: [hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity

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


adenine metabolic process

description: 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

description: 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

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


pyoderma gangrenosum

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


Pelvic hemorrhage

description: Bleeding within the pelvic cavity.


renovascular hypertension

description: High blood pressure secondary to renal artery stenosis.


name: metal incorporation into metallo-sulfur cluster

description: 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

description: Larger than normal size of erythrocytes.


reelin receptor activity

description: 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.


name: Blood follicle stimulating hormone increased


name: carnitine transmembrane transporter activity

description: 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.


name: purine nucleoside bisphosphate catabolic process

description: 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

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


name: positive regulation of hydrogen peroxide-mediated programmed cell death

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


dihydroorotase activity

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


oculomotor nerve formation

description: 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

description: 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

description: 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

description: 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.


Pseudohyperkalemia

description: Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample.


name: leukemia inhibitory factor signaling pathway

description: 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.


name: response to triacyl bacterial lipopeptide

description: 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

description: 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.


name: regulation of translational initiation by eIF2 alpha dephosphorylation

description: 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

description: 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

description: 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

description: 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

description: Combining with adrenomedullin to initiate a change in cell activity.


Acidemia

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


plasma cell leukemia

description: 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.


name: positive regulation of gastro-intestinal system smooth muscle contraction

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


Ovarian Hemorrhage

description: Bleeding originating from the ovary.


name: pattern specification involved in mesonephros development

description: 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

description: 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).


name: pyrimidine nucleotide transmembrane transporter activity

description: 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.


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

description: 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

description: A aspergillosis that involves the lung.


diabetic retinopathy

description: 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

description: 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.


name: nitric oxide production involved in inflammatory response

description: 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

description: A history of having had an abnormal echocardiogram.


name: Methicillin-resistant Staphylococcus aureus infection

description: 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

description: 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

description: 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

description: 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

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


Dysdiadochokinesis

description: 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

description: 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

description: 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

description: 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

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


Pseudoaneurysm

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


name: positive regulation of androgen receptor activity

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


angioimmunoblastic T-cell lymphoma

description: 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

description: 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

description: Infections with bacteria of the genus salmonella.


name: transcription termination site sequence-specific DNA binding

description: 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

description: 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

description: 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

description: Polyneuropathy that is characterized by demyelination of axons.


inhalational anthrax

description: 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

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


incus bone

description: 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].


name: cellular response to molecule of fungal origin

description: 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

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


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

description: 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

description: 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

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


histone H3K9 deacetylase activity

description: 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

description: 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.


name: negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis

description: Any process that decreases the rate, frequency or extent of the transition where a mesenchymal cell establishes apical/basolateral polarity,forms intercellular adhesive junctions, synthesizes basement membrane components and becomes an epithelial cell that will contribute to the shaping of the metanephros.


corticotropin hormone receptor binding

description: Binding to a corticotropin hormone receptor.


Hospital acquired pneumonia

description: Pneumonia acquired during a hospital stay.


erythropoietin receptor binding

description: Binding to an erythropoietin receptor.


name: negative regulation of chorionic trophoblast cell proliferation

description: Any process that stops, prevents or reduces the frequency, rate or extent of chorionic trophoblast cell proliferation.


glomerular disorder

description: A disease involving the renal glomerulus.


Fetal Heart Rate

description: The number of fetal cardiac beats per minute.


name: regulation of twitch skeletal muscle contraction

description: Any process that modulates the frequency, rate or extent of twitch skeletal muscle contraction.


U2-type catalytic step 1 spliceosome

description: A spliceosomal complex that is formed by the displacement of the U1 and U4 snRNPs from the precatalytic spliceosome; the U2, U5 and U6 snRNPs remain associated with the mRNA. This complex, sometimes called the activated spliceosome, is the catalytically active form of the spliceosome, and includes many proteins in addition to those found in the U2, and U5 and U6 snRNPs.


name: regulation of endocannabinoid signaling pathway

description: Any process that modulates the frequency, rate or extent of endocannabinoid signaling pathway.


ectopic ACTH secretion syndrome

description: A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)


Sebaceous hyperplasia

description: A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.


Thrombosis of renal artery

description: The formation of a thrombus in the renal artery.


adenoviridae infectious disease

description: An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis.


disseminated candidiasis

description: Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes.


name: protein-carbohydrate complex subunit organization

description: Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein-carbohydrate complex.


Vocal cord paresis

description: Decreased strength of the vocal folds.


description: Catalysis of the transfer of an alpha-D-glucosyl residue from dolichyl-phosphate D-glucose into a membrane lipid-linked oligosaccharide.


Finger pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.


fourth ventricle development

description: The process whose specific outcome is the progression of the fourth ventricle over time, from its formation to the mature structure. The fourth ventricle is an irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind. It is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space.


pyrimidine nucleobase transport

description: The directed movement of pyrimidine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


varicocele

description: A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.


Golgi apparatus mannose trimming

description: Any protein alpha-1,2-demannosylation that takes place in the Golgi apparatus.


synaptic vesicle membrane organization

description: A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the membrane surrounding a synaptic vesicle.


Abnormal spermatogenesis

description: Incomplete maturation or aberrant formation of the male gametes.


preeclampsia

description: Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.


name: regulation of exo-alpha-sialidase activity

description: Any process that modulates the frequency, rate or extent of exo-alpha-sialidase activity.


Pneumocystis infectious disease

description: Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally.


B-cell acute lymphoblastic leukemia

description: A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)


hymen, imperforate

description: A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.


hydatidiform mole

description: A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.


Fractured radius

description: Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken.


renal fibrosis

description: A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.


name: positive regulation of satellite cell activation involved in skeletal muscle regeneration

description: Any process that activates, maintains or increases the frequency, rate or extent of activation of satellite cell involved in skeletal muscle regeneration. The activation of satellite cell is the process that initiates satellite cell division by causing it to move from quiescence to the G1 stage of the cell cycle. The cell swells and there are a number of other small changes. The cells then start to divide. Following cell division the cells will differentiate.


Pituitary microadenoma

description: A pituitary adenoma that is less than 10 mm in diameter.


name: avascular necrosis of femoral head, primary, 1

description: Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply.


Transudative pleural effusion

description: A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.


name: Increased viscosity of bronchial secretion


Compression fracture

description: Compression-induced traumatic break, and resulting collapse, of a short bone.


corpora quadrigemina development

description: The progression of the corpora quadrigemina over time, from its formation to the mature structure. The corpora quadrigemina is a part of the midbrain that is made up of the superior and inferior colliculi.


Pancreatic abscess

description: A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.


central nervous system morphogenesis

description: The process in which the anatomical structure of the central nervous system is generated and organized. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.


nasal disorder

description: A disease involving the nose.


name: phosphoenolpyruvate carboxykinase (GTP) activity

description: Catalysis of the reaction: GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO2.


Abnormal skull morphology

description: An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.


name: negative regulation of mesenchymal cell proliferation involved in lung development

description: Any process that stops, prevents or reduces the frequency, rate or extent of mesenchymal cell proliferation involved in lung development.


name: negative regulation of satellite cell differentiation

description: Any process that stops, prevents or reduces the frequency, rate or extent of satellite cell differentiation.


esophageal varices with bleeding

description: Bleeding from esophageal varices.


Duodenal perforation

description: A rupture in the duodenal wall due to traumatic or pathologic processes.


signal peptidase complex

description: A protein complex that is located in the endoplasmic reticulum membrane and cleaves the signal sequence from precursor proteins following their transport out of the cytoplasmic space.


name: histamine production involved in inflammatory response

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


Corneal scarring

description: Trauma to the cornea of the eye.


coronary stenosis

description: Narrowing of the coronary artery lumen diameter.


name: negative regulation of myoblast proliferation

description: Any process that stops, prevents or reduces the frequency, rate or extent of myoblast proliferation.


Skin Granuloma

description: A granuloma located in the skin.


blue light signaling pathway

description: The series of molecular signals initiated upon sensing of blue light by photoreceptor molecule, at a wavelength between 400nm and 470nm.


positive regulation of response to drug

description: Any process that activates or increases the frequency, rate or extent of response to drug.


name: regulation of ripoptosome assembly involved in necroptotic process

description: Any process that modulates the frequency, rate or extent of ripoptosome assembly involved in a necroptotic process.


regulation of heart looping

description: Any process that modulates the frequency, rate or extent of heart looping.


name: negative regulation of mitochondrial RNA catabolic process

description: Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving catabolism in the mitochondrion of RNA transcribed from the mitochondrial genome.


Joint crepitus

description: A popping, clicking or crackling sound that accompaniees movement of a joint.


TORC2 signaling

description: A series of intracellular molecular signals mediated by TORC2; TOR (rapamycin-insensitive companion of TOR) in complex with at least Rictor (regulatory-associated protein of TOR), or orthologs of, and other signaling components.


Urinary Tract Pain

description: Painful sensation in any part of the urinary tract.


Hypocalciuria

description: An abnormally decreased calcium concentration in the urine.


Chylothorax

description: Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.


Disorder of soft tissue

description: A non-neoplastic or neoplastic disorder that affects the soft tissue.


negative regulation of sterol import

description: Any process that stops, prevents or reduces the frequency, rate or extent of sterol import.


intestinal pseudo-obstruction

description: Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate.


persistent fetal circulation syndrome

description: A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus.


early endosome lumen

description: The volume enclosed by the membrane of an early endosome.


negative regulation of mitophagy

description: Any process that stops, prevents or reduces the frequency, rate or extent of mitophagy.


astrocytoma (excluding glioblastoma)

description: A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.


name: positive regulation of interleukin-18 production

description: Any process that activates or increases the frequency, rate, or extent of interleukin-18 production.


bone sarcoma

description: A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.


egg coat formation

description: Construction of an egg coat, a specialized extracellular matrix that surrounds the ovum of animals. The egg coat provides structural support and can play an essential role in oogenesis, fertilization and early development.


name: positive regulation of acute inflammatory response to non-antigenic stimulus

description: Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response to a non-antigenic stimulus.


tensor tympani

description: The larger of the two muscles of the tympanic cavity, is contained in the bony canal above the osseous portion of the auditory tube. Its role is to dampen sounds produced from chewing. It arises from the cartilaginous portion of the auditory tube and the adjoining part of the great wing of the sphenoid, as well as from the osseous canal in which it is contained. Passing backward through the canal, it ends in a slender tendon which enters the tympanic cavity, makes a sharp bend around the extremity of the septum, known as the processus cochleariformis[1], and is inserted into the manubrium of the malleus, near its root[WP].


name: extracellular matrix constituent secretion

description: The controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell.


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

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


hemimelia

description: Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.


vestibular neuronitis

description: Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)


Comedo

description: A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).


Hemorrhagic Shock

description: Hypoperfusion of body tissues due to acute blood loss, resulting in cellular injury and vital organ dysfunction.


name: renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure

description: The physiological response of the kidneys to a decrease in blood flow.


cytomegalovirus pneumonia

description: Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating.


laminin-2 complex

description: A laminin complex composed of alpha2, beta1 and gamma1 polypeptide chains.


acanthosis nigricans

description: A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.


name: negative regulation of eosinophil activation

description: Any process that stops, prevents or reduces the frequency, rate or extent of eosinophil activation.


name: positive regulation of mesenchymal stem cell proliferation

description: Any process that activates or increases the frequency, rate or extent of mesenchymal stem cell proliferation.


phenylalanine-tRNA ligase complex

description: An enzyme complex that catalyzes the ligation of phenylalanine to tRNA(Phe), forming L-phenylalanyl-tRNA(Phe).


choroiditis

description: An inflammatory process that affects the choroid.


Intraventricular hemorrhage

description: Bleeding into the ventricles of the brain.


Gallbladder Sludge

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


clubfoot

description: The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.


Lumbar Puncture Headache

description: Headache in erect position, after lumbar puncture; due to lowering of intracranial pressure by leakage of cerebrospinal fluid through the needle tract.


name: Decreased circulating ferritin concentration

description: Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.


maintenance of mitochondrion location

description: Any process in which a mitochondrion is maintained in a specific location within a cell and prevented from moving elsewhere.


Pneumopericardium

description: The presence of air in the pericardial cavity. Causes include chest injury in adults, and respiratory distress syndrome in infants.


Esophageal obstruction

description: Blockage of the normal flow of the contents in the esophagus.


Erythroid hypoplasia

description: Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


acquired hemophilia

description: Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications.


Hemorrhage of liver

description: Bleeding originating from the liver.


cellular response to redox state

description: 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 indicating redox state. Redox state refers to the balance of oxidized versus reduced forms of electron donors and acceptors in an organelle, cell or organ; plastoquinone, glutathione (GSH/GSSG), and nicotinamide nucleotides (NAD+/NADH and NADP+/NADPH) are among the most important.


puerperal disorder

description: Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans.


name: Febrile seizure (within the age range of 3 months to 6 years)

description: A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.


atrophic glossitis

description: Glossy appearance of the entire tongue surface.


Cerebral artery stenosis

description: Narrowing or constriction of the inner surface (lumen) of a cerebral artery.


sagittal sinus thrombosis

description: Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma.


male germ cell proliferation

description: The multiplication or reproduction of male germ cells, resulting in the expansion of a cell population.


secondary syphilis

description: The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage.


Mycobacterium test

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


patent foramen ovale

description: A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes.


Fractured vertebra

description: A partial or complete breakage of the vertebra.


Corneal stromal edema

description: Abnormal accumulation of fluid and swelling of the stroma of cornea.


name: negative regulation of ATPase-coupled calcium transmembrane transporter activity

description: Any process that stops, prevents or reduces the frequency, rate or extent of an ATPase-coupled calcium transmembrane transporter activity.


central retinal vein occlusion

description: Blockage of the central retinal vein.


syndactyly

description: A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms.


Hypoplasia of teeth

description: Developmental hypoplasia of teeth.


malleus bone

description: The malleus or hammer is a hammer-shaped small bone or ossicle of the middle ear which connects with the incus and is attached to the inner surface of the eardrum. The word is Latin for hammer. It transmits the sound vibrations from the eardrum to the incus. The malleus is unique to mammals, and evolved from a lower jaw bone in basal amniotes called the articular, which still forms part of the jaw joint in reptiles. 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].


name: regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis

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


tumor of parathyroid gland

description: A neoplasm (disease) that involves the parathyroid gland.


Intestinal Mass

description: An abnormal growth in the small or large intestine.


Claustrophobia

description: An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia.


Abdominal Infection

description: Infection in the abdominal cavity resulting from injury, acute intestinal inflammation (e.g., acute appendicitis), intestinal perforation, or complication of abdominal surgery.


Urate tophus

description: Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi.


Serum Bicarbonate Decreased

description: A laboratory test result which indicates decreased levels of bicarbonate in the serum.


Axillary lymphadenopathy

description: Enlarged lymph node located in the axillary region (armpit).


heart septal defect

description: A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum.


Abnormal systemic arterial morphology

description: An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.


Bronchial hemorrhage

description: Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy.


name: positive regulation of protein K48-linked ubiquitination

description: Any process that activates or increases the frequency, rate or extent of protein K48-linked ubiquitination.


acromegaly

description: Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.


Thin nail

description: Nail that appears thin when viewed on end.


Myocardial hypertrophy

description: Thickening of the myocardium often due to chronic pressure overload.


paroxysmal nocturnal hemoglobinuria

description: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.


Cicatrix, Hypertrophic

description: A permanent mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It is elevated and does not extend beyond the original boundaries of the wound; the elevation may stabilize or regress spontaneously.


Neonatal sepsis

description: Systemic inflammatory response to infection in newborn babies.


Degeneration of uterine fibroid

description: A morphologic variant of uterine corpus leiomyoma characterized by the presence of hyalinized or myxoid stroma, edema, cystic changes, hemorrhage, and calcifications.


glioma

description: A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.


familial long QT syndrome

description: A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.


pyelitis

description: Inflammation of the renal pelvis.


papillomatosis

description: Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site.


dermoid cyst of ovary

description: A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral.


Euthyroid goiter

description: A goiter that is not associated with functional thyroid abnormalities.


malignant renal pelvis neoplasm

description: A primary or metastatic malignant neoplasm that affects the renal pelvis.


inferior myocardial infarction

description: Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.


Leukemic infiltration of skin

description: Cutaneous involvement by an acute or chronic leukemia.


Coombs-positive hemolytic anemia

description: A type of hemolytic anemia in which the Coombs test is positive.


Genu valgum

description: The legs angle inward, such that the knees are close together and the ankles far apart.


iris disorder

description: A disease involving the iris.


vestibular aqueduct

description: At the hinder part of the medial wall of the vestibule is the orifice of the vestibular aqueduct, which extends to the posterior surface of the petrous portion of the temporal bone. It transmits a small vein, and contains a tubular prolongation of the membranous labyrinth, the ductus endolymphaticus, which ends in a cul-de-sac between the layers of the dura mater within the cranial cavity. [WP,unvetted].


Abnormal platelet count

description: Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.


Budd-Chiari syndrome

description: Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.


Cytomegaloviral gastritis

description: Inflammation of stomach that is associated with cytomegalovirus.


blastomycosis

description: Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant.


histiocytosis

description: A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes.


coagulation protein disease

description: Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.


Increased RBC distribution width

description: Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.


endometrial cancer

description: Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).


polyhydramnios

description: An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm.


L-ascorbic acid transmembrane transport

description: The process in which L-ascorbic acid is transported across a lipid bilayer, 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.


Chemical peritonitis

description: A non-infectious inflammation of the peritoneum.


bladder diverticulum

description: A pouch or sac-like protrusion in the bladder wall.


lacrimal duct obstruction

description: Blockage of the tear duct.


Abnormal Mammogram

description: A radiologic finding indicating the presence of abnormalities in the breast parenchyma identified in a mammogram performed for screening or diagnostic purposes.  These abnormalities include calcifications, breast tissue distortion, presence of areas of density, and presence of benign or malignant tumors.


hepatoblastoma

description: Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.


fetal alcohol syndrome

description: Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).


name: negative regulation of interleukin-1-mediated signaling pathway

description: Any process that stops, prevents or reduces the frequency, rate or extent of interleukin-1-mediated signaling pathway.


temporal arteritis

description: A large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.


Sinus Rhythm

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


name: cyanidin 3-O-glucoside 2-O''-xylosyltransferase activity

description: Catalysis of the reaction: cyanidin 3-O-beta-D-glucoside betaine + UDP-alpha-D-xylose = cyanidin 3-O-beta-D-sambubioside + UDP.


name: ribonucleoside-diphosphate reductase activity, glutaredoxin disulfide as acceptor

description: Catalysis of the reaction: 2'-deoxyribonucleoside diphosphate + glutaredoxin disulfide + H2O -> ribonucleoside diphosphate + glutaredoxin.


name: vitamin-K-epoxide reductase (warfarin-insensitive) activity

description: Catalysis of the reaction: 3-hydroxy-2-methyl-3-phytyl-2,3-dihydronaphthoquinone + oxidized dithiothreitol + H2O = 2,3-epoxy-2,3-dihydro-2-methyl-3-phytyl-1,4-naphthoquinone + 1,4-dithiothreitol.


UDP reductase activity

description: Catalysis of the reaction: dUDP + thioredoxin disulfide + H2O = UDP + thioredoxin.


ADP reductase activity

description: Catalysis of the reaction: dADP + thioredoxin disulfide + H2O = ADP + thioredoxin.


CDP reductase activity

description: Catalysis of the reaction: dCDP + thioredoxin disulfide + H2O = CDP + thioredoxin.


description: Catalysis of the reaction: 2'-deoxyribonucleoside triphosphate + thioredoxin disulfide + H2O = ribonucleoside triphosphate + thioredoxin.


Obstructive Ureterocele

description: A ureterocele with a small, obstructive orifice.


ureterocele

description: A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra.


Orthotopic ureterocele

description: A ureterocele that is located entirely within the bladder, and which may be associated with a single system, with the upper pole ureter of a completely duplicated system, or rarely associated with a lower pole ureter. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.)


Sphincteric Ureterocele

description: A ureterocele in which the orifice is distal to the external urinary sphincter.


Cecoureterocele

description: A ureterocele in which the orifice is located in the bladder, with the ureterocele pouch extending submucosally into the urethra.


Ectopic ureterocele

description: A ureterocele in which some portion of the ureterocele is situated permanently at the bladder neck or in the urethra. The orifice may be situated in the bladder, at the bladder neck, or in the urethra. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.)


taurodontism

description: Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome.


name: myasthenic syndrome, congenital, 23, presynaptic


name: nephrolithiasis susceptibility caused by SLC26A1


name: negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase

description: Any process that stops, prevents or reduces the frequency, rate or extent of fatty acid beta-oxidation using acyl-CoA dehydrogenase.


Postsurgical Stage II Hepatoblastoma

description: No metastases, tumor grossly resected with microscopic residual disease (i.e., positive margins); or tumor rupture, or tumor spill at the time of surgery. (from PDQ 2004)


description: Catalysis of the reaction: 5-guanidino-2-oxopentanoate + H+ = 4-guanidinobutanal + CO2.


primary ciliary dyskinesia 4

description: A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1.


infantile diarrhea

description: Diarrhea occurring in infants from newborn to 24-months old.


Ulnar deviation of the 4th finger

description: Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger).


Radial deviation of the 4th finger

description: Displacement of the 4th finger towards the radial side (i.e., towards the thumb).


Radial deviation of the 2nd finger

description: Displacement of the 2nd finger towards the radial side.


Ulnar deviation of thumb

description: Bending or curvature of a thumb towards the ulnar side (towards the ring finger).


Deviation of the 2nd finger

description: Displacement of the 2nd finger from its normal position.


Distally placed thumb

description: Insertion of thumb at a more distal location than normal.


Ulnar deviation of the 5th finger

description: Displacement of the 5th finger towards the ulnar side.


Radial deviation of the 3rd finger

description: Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).


Ulnar deviation of the 2nd finger

description: Displacement of the 2nd (index) finger towards the ulnar side.


Hitchhiker thumb

description: With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.


Ulnar deviation of finger

description: Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.


Clinodactyly of the 5th finger

description: Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).


Deviation of the 5th finger

description: Displacement of the 5th finger from its normal position.


Overlapping fingers

description: A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.


name: Fifth finger distal phalanx clinodactyly

description: Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).


Proximal placement of thumb

description: Proximal mislocalization of the thumb.


Ulnar deviation of the 3rd finger

description: Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).


Radial deviation of finger

description: Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.


Deviation of the thumb

description: Displacement of the thumb from its normal position.


Deviation of the 4th finger

description: Displacement of the 4th finger from its normal position.


Deviation of the 3rd finger

description: Displacement of the 3rd finger from its normal position.


tRNA transmembrane transporter activity

description: Enables the transfer of tRNA, transfer ribonucleic acid, from one side of a membrane to the other.


name: Premature birth following premature rupture of fetal membranes


Preterm premature rupture of membranes

description: PPROM (preterm premature rupture of membranes) occurs at less than 37 weeks of gestation. PPROM can happen spontaneously, during preterm labor, or following a procedure such as amniocentesis.


Wormian bones

description: The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.


name: Elevated circulating 4-methyl-2-oxopentanoic acid concentration

description: The concentration of 4-methyl-2-oxopentanoic acid in the blood circulation is above the upper limit of normal.


tentorial sinus

description: An unpaired venous dural sinus that receives blood from the superior cerebellar veins and inferior sagittal sinus and drains into the confluence of sinuses.


atrioventricular septal defect 4

description: Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.


name: structural congenital heart disease, multiple types - GATA4

description: Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene.


ventricular septal defect 1

description: Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.


atrial septal defect 2

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.


B-1 B cell lineage commitment

description: The process in which an immature B cell becomes committed to become a B-1 B cell.


indole catabolic process

description: The chemical reactions and pathways resulting in the breakdown of indole (2,3-benzopyrrole), the basis of many biologically active substances (e.g. serotonin, tryptophan).


indole metabolic process

description: The chemical reactions and pathways involving indole (2,3-benzopyrrole), the basis of many biologically active substances (e.g. serotonin, tryptophan).


indole biosynthetic process

description: The chemical reactions and pathways resulting in the formation of indole (2,3-benzopyrrole), the basis of many biologically active substances (e.g. serotonin, tryptophan).


name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

description: A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.


name: specification of animal organ axis polarity

description: The process in which the polarity of an animal organ axis is specified.


reactive arthritis

description: Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis.


Localized Parathyroid Gland Carcinoma

description: A parathyroid gland carcinoma that has not spread to other anatomic sites.


head and neck carcinoma

description: A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.


name: Nasopharyngeal Carcinoma by AJCC v7 Stage

description: A term that refers to the staging of nasopharyngeal carcinoma according to the American Joint Committee on Cancer, 7th edition.


name: Refractory Thyroid Gland Oncocytic Carcinoma

description: Thyroid gland oncocytic carcinoma that is resistant to treatment.


name: Stage II Differentiated Thyroid Gland Carcinoma AJCC v7

description: Stage II includes: Under 45 years: Any T, Any N, M1.  45 years and older: T2, N0, M0.  T2: Tumor more than 2 cm but not more than 4 cm in greatest dimension, limited to the thyroid gland.  N0: No regional lymph node metastasis.  M1: Distant metastasis.  M0: No evidence of distant metastasis.  (from AJCC 7th Ed.)


name: Oropharyngeal (p16-Negative) Carcinoma by AJCC v8 Stage

description: A term that refers to the staging of p16-negative oropharyngeal carcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Thyroid Gland Sclerosing Mucoepidermoid Carcinoma with Eosinophilia

description: A rare type of mucoepidermoid carcinoma of the thyroid gland, usually associated with chronic lymphocytic thyroiditis.  It exhibits a unique morphologic appearance consisting of a squamoid, nested growth pattern, dense fibrosis, and mucinous differentiation.  The histogenesis of this unusual carcinoma has been debated, and it is unclear if it arises from remnants of the ultimobranchial body or from the follicular epithelial cells.


name: Stage I Thyroid Gland Follicular Carcinoma AJCC v8

description: Stage I includes: Under 55 years: Any T, Any N, M0. 55 years and older: (T1, N0/NX, M0); (T2, N0/NX, M0).  T1: Tumor measuring 2 cm or less in greatest dimension limited to the thyroid. T2: Tumor measuring more than 2 cm but 4 cm or less in greatest dimension limited to the thyroid. N0: No evidence of locoregional lymph node metastasis. NX: Regional lymph nodes cannot be assessed. M0: No distant metastasis. (from AJCC 8th Ed.)


name: Unresectable Laryngeal Squamous Cell Carcinoma

description: Laryngeal squamous cell carcinoma that is not amenable to surgical resection.


name: Metastatic Nasopharyngeal Nonkeratinizing Carcinoma

description: Nasopharyngeal non-keratinizing carcinoma that has spread from its original site of growth to another anatomic site.


Stage IVC Laryngeal Cancer AJCC v8

description: Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


name: Hypopharyngeal Spindle Cell Squamous Carcinoma

description: A squamous cell carcinoma that arises from the hypopharynx. It is characterized by the presence of a malignant spindle cell cellular component. In some cases, there is a biphasic morphology due to the presence of a well-differentiated squamous cell carcinoma component. The latter is either in situ or invasive squamous cell carcinoma.


name: Metastatic Thyroid Gland Anaplastic Carcinoma

description: Thyroid gland anaplastic carcinoma that has spread from the original site of growth to another anatomic site.