striatonigral degeneration

description: A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.


Lewy body dementia

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

description: A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.


A member of the class of phenols that is phenol which is carrying an isopropyl group at position 4.


BUTAFENACIL

An organofluorine compound that is 1-methyl-6-(trifluoromethyl)pyrimidine-2,4(1H,3H)-dione substituted by a 4-chloro-3-({[2-methyl-1-oxo-1-(prop-2-en-1-yloxy)propan-2-yl]oxy}carbonyl)phenyl group at position 3. It is a herbicide which inhibits the protoporphyrinogen-oxidase enzyme in plant chloroplasts, resulting in rapid knockdown of various broadleaf and grass weeds.


HALOXYFOP-P-METHYL

A methyl 2-(4-{[3-chloro-5-(trifluoromethyl)pyridin-2-yl]oxy}phenoxy)propanoate that has R configuration. It is a proherbicide (by hydrolysis of the methyl ester) for the herbicide haloxyfop-P, the most active enantiomer of the racemic herbicide haloxyfop.


carglumic acid

A urea that is the N-carbamoyl derivative of L-glutamic acid. An orphan drug used to treat a deficiency in the enzyme N-acetylglutamate synthase, which leads to acute hyperammonaemia.


myotonic syndrome

description: An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy.


brachial plexus neuritis

description: An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.


Egg allergy

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

description: Hypersensitivity in form of an adverse immune reaction against eggs.


pancreatic ductal adenocarcinoma

description: An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor.


Flank pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.


multicystic dysplastic kidney

description: Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.


Hyperammonemia

description: An increased concentration of ammonia in the blood.


Chills

description: A sudden sensation of feeling cold.


coronary restenosis

description: Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.


coronary stenosis

description: Narrowing of the coronary artery lumen diameter.


myeloid sarcoma

description: A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)


tauopathy

description: Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.


chromosomal disorder

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


osteoarthritis, spine

description: A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte).


pyridoxine deficiency anemia

description: Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.


polyomavirus infectious disease

description: Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).


lattice corneal dystrophy

description: The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.


autosomal dominant optic atrophy

description: An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.


Leber hereditary optic neuropathy

description: Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.


ACLIDINIUM BROMIDE

A quaternary ammonium salt that is the bromide salt of aclidinium. A muscarinic acetylcholine M3 receptor antagonist, for the long-term maintenance treatment of bronchospasm associated with chronic obstructive pulmonary disease (COPD).


A member of the class of benzamides obtained by formal condensation of the carboxy group of 3-{3-bromo-4-[(2,4-difluorobenzyl)oxy]-6-methyl-2-oxopyridin-1-yl}-4-methylbenzoic acid with the amino group of methylamine.


inherited aplastic anemia

description: An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.


Diamond-Blackfan anemia

description: A congenital aregenerative and often macrocytic anemia with erythroblastopenia.


long QT syndrome 1

description: An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.


hereditary disease

description: A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.


human papilloma virus infection

description: An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.


cytochrome-c oxidase deficiency disease

description: A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.


retinal vasculitis

description: Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis.


hydatidiform mole, recurrent, 1

description: Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.


Hypoalbuminemia

description: Reduction in the concentration of albumin in the blood.


hyperamylasemia

description: Abnormally high level of amylase in the blood.


azosemide

A sulfonamide that is benzenesulfonamide which is substituted at positions 2, 4, and 5 by chlorine, (2-thienylmethyl)amino and 1H-tetrazol-5-yl groups, respectively. It is a diuretic that has been used in the management of oedema and hypertension.


cutaneous mastocytosis

description: Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.


systemic mastocytosis

description: Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement.


plantar fasciitis

description: Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related.


Alexander disease

description: Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.


retinoschisis

description: An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision.


cholecystolithiasis

description: Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity.


obstructive jaundice

description: A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system.


acute cholecystitis

description: Acute inflammation of the gallbladder.


choledocholithiasis

description: Presence or formation of gallstones in the common bile duct.


irritable bowel syndrome

description: Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterized by abdominal pain or discomfort and disordered bowel habit (diarrhea, constipation, or fluctuation between the two).


linaclotide

A fourteen-membered heterodetic cyclic peptide consisting of Cys, Cys, Glu, Tyr, Cys, Cys, Asn, Pro, Ala, Cys, Thr, Gly, Cys and Tyr residues joined in sequence and cyclised by three disulfide bonds: between Cys(1) and Cys(6), between Cys(2) and Cys(10), and between Cys(5) and Cys(13). Used for treatment of irritable bowel syndrome accompanied by constipation.


apparent mineralocorticoid excess

description: Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.


gastrointestinal polyp

description: A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.


familial hyperinsulinism

description: An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.


severe acute respiratory syndrome

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


Reticulocytosis

description: An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.


henipavirus infectious disease

description: Infections with viruses of the genus henipavirus, family paramyxoviridae.


steatorrhea

description: A finding of an excessive amount of fat in the stool.


diffuse scleroderma

description: A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.


limited cutaneous systemic sclerosis

description: Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.


intestinal volvulus

description: Twisting of a loop of bowel that results in intestinal obstruction.


ileus

description: Decrease in peristalsis in the absence of a mechanical bowel obstruction.


Moraxellaceae infectious disease

description: Infections with bacteria of the family moraxellaceae.


deafness, unilateral

description: A unilateral absence of sensory perception of sound.


name: hearing loss, mixed conductive-sensorineural

description: Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.


gastrointestinal stromal tumor

description: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.


hereditary coproporphyria

description: A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.


variegate porphyria

description: Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.


erythropoietic protoporphyria

description: A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.


Sphincter of Oddi dyskinesia

description: Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.


Epidural Hematoma

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


islet cell adenomatosis

description: A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.


ACTH-dependent Cushing syndrome

description: Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).


A phenylethylamine that is ethylamine substituted by a phenyl group at position 1.


beryllium dichloride

A compound of beryllium (+2 oxidation state) and chloride in the ratio 1:2.


DUROQUINONE

A member of the class of 1,4-benzoquinones that is 1,4-benzoquinone in which all four hydrogens are substituted by methyl groups.


versicolorin A

An organic heteropentacyclic compound that is 3a,12a-dihydroanthra[2,3-b]furo[3,2-d]furan-5,10-dione carrying three hydroxy substituents at positions 4, 6 and 8.


Complications of Diabetes Mellitus

description: Organ or tissue damage due to diabetes mellitus. It includes heart disease and stroke, renal disease and renal failure, retinopathy, neuropathies, and erectile dysfunction.


Labor Pain

description: The discomfort that is experienced by the pregnant mother during the childbirth process as she attempts to give birth.


Morning Sickness

description: The nausea and vomiting that accompanies early pregnancy.


4-bromophenyl phenyl ether

An aromatic ether that is diphenyl ether substituted at position 4 by a bromo group.


CLODINAFOP PROPARGYL

A carboxylic ester resulting from the formal condensation of the carboxy group of clodinafop with the hydroxy group of prop-2-yn-1-ol. It is widely used as a herbicide for the control of annual grass weeds in cereal crops.


DAZOMET

A dithiocarbamic ester that is 1,3,5-thiadiazinane with a thione moiety at position 2 and in which the hydrogens attached to the nitrogens are replaced by methyl groups. A fungicide, herbicide and nematicide, it is used prior to sowing or planting for the control of soil fungi, nematodes, bacteria and germinating weeds, and as fumigant for poultry litter and eggs to control Salmonella. It is a non-ozone-depleting alternative to methyl bromide.


TRIETHYL PHOSPHATE

A trialkyl phosphate that is the triethy ester derivative of  phosphoric acid.


distal myopathy

description: Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.


name: growth hormone-producing pituitary gland adenoma

description: An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.


primary hyperparathyroidism

description: Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.


endocrine exophthalmos

description: Progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective, and fatty tissue occurring in patients with hyperthyroidism or a history of hyperthyroidism due to Graves’ disease.


Thyroid dysgenesis

description: A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.


description: 46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.


thiouracil

A nucleobase analogue that is uracil in which the oxo group at C-2 is replaced by a thioxo group.


chronic pancreatitis

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


Bone fracture

description: A partial or complete breakage of the continuity of a bone.


SUNCT syndrome

description: SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).


hypnic headache

description: Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.


paroxysmal Hemicrania

description: Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.


Difficulty walking

description: Reduced ability to walk (ambulate).


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).


kidney failure

description: An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.


postherpetic neuralgia

description: Pain that occurs after the disappearance of herpes zoster infection lesions.


Hematospermia

description: A finding indicating the presence of blood in the semen.


histiocytoma

description: A mesenchymal tumor composed of fibroblastic and histiocytic cells.


undifferentiated pleomorphic sarcoma

description: An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.


Delayed Graft Function

description: The need for dialysis within a week of kidney transplant.


mucositis

description: Inflammation of the mucous membranes.


bulimia nervosa

description: A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image.


cystic kidney disease

description: A congenital or acquired kidney disorder characterized by the presence of renal cysts.


Usher syndrome

description: A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.


tendinopathy

description: Disorders that are causes by overuse of tendons.


inherited lipid metabolism disorder

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


familial partial lipodystrophy

description: Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.


Niemann-Pick disease type C

description: NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.


urolithiasis

description: Stone(s) within the urinary tract.


acetohydroxamic acid

A member of the class of acetohydroxamic acids that is acetamide in which one of the amino hydrogens has been replaced by a hydroxy group.


pyomyositis

description: Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.


nephrolithiasis

description: The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.


Azotemia

description: An increased concentration of nitrogen compounds in the blood.


Aspiration

description: Inspiration of a foreign object into the airway.


Nocturia

description: Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.


Dysuria

description: Painful or difficult urination.


overactive bladder

description: Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.


nocturnal enuresis

description: Urination during sleep.


Hypercalciuria

description: Abnormally high level of calcium in the urine.


opsoclonus-myoclonus syndrome

description: Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.


Lethargy

description: A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.


azoospermia

description: A male infertility disease characterized by the absence of any measurable level of sperm in semen.


scleromyxedema

description: Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.


Brugada syndrome

description: A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.


posterior leukoencephalopathy syndrome

description: An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.


Onycholysis

description: Detachment of the nail from the nail bed.


acute coronary syndrome

description: Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.


pulmonary embolism and infarction

description: Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism.


Volkmann contracture

description: An ischemic contracture of the forearm that most often occurs secondary to trauma.


description: T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.


livedo reticularis

description: A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.


vascular malformation

description: A non-neoplastic disorder that is the result of defects of vascular morphogenesis.


lissencephaly spectrum disorders

description: The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.


Myocardial bridging

description: A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.


Ventricular flutter

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


systolic heart failure

description: Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.


diastolic heart failure

description: Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling.


hereditary angioedema

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


cerebral cortical dysplasia

description: Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.


vesicular stomatitis

description: A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness.


Marchiafava-Bignami disease

description: Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.


Sertoli cell-only syndrome

description: Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children.


juvenile myelomonocytic leukemia

description: A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)


name: atypical chronic myeloid leukemia, BCR-ABL1 negative

description: A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)


orbital cellulitis

description: Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary.


atrioventricular block

description: A heart block that is initiated in the atrioventricular node.


Tako-tsubo cardiomyopathy

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


venous thromboembolism

description: Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.


hyperphosphatemia

description: Abnormally high level of phosphate in the blood.


primary effusion lymphoma

description: Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).


histiocytic sarcoma

description: An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.


extensively drug-resistant tuberculosis

description: A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid.


name: postural orthostatic tachycardia syndrome

description: A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart.


nephrogenic systemic fibrosis

description: Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.


gadoversetamide

A gadolinium coordination entity that consists of Gd(3+) coordinated to 3,6,9-triazaundecadiamide in which each of the amide nitrogens is substituted by a 2-methoxyethyl group and in which the nitrogens at positions 3, 6, and 9 are each substituted by carboxylatomethyl group. The gadolinium is coordinated to the three tertiary amino groups as well as to the carboxylate groups. A white odourless powder that is freely soluble in water, gadoversetamide has paramagnetic properties and is used as a contrast agent in magnetic resonance imaging. It distributes mainly in extracellular fluid, but does not cross the blood-brain barrier. It is used particularly in imaging the brain, spine and liver.


interstitial lung disease 2

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


spondylosis

description: A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue.


congenital laryngomalacia

description: Increased collapsibility of the larynx.


pyometritis

description: Inflammation of uterine musculature associated with pus in the uterine cavity.


spasmodic dystonia

description: A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.


JTE-607 dihydrochloride

The dihydrochloride salt of JTE-607. It is a cytokine inhibitor which suppresses the production of proinflammatory cytokines such as interleukin (IL-1beta), IL-6, IL-8, granulocyte macrophage colony stimulating factor (GM-CSF), and tumor necrosis factor (TNF-alpha). It acts as a pro-drug which is cleaved by carboxylesterase 1 (CES1) to its active free acid form, which then binds to cleavage and polyadenylation specificity factor 3 (CPSF3).


neurogenic bowel

description: Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body.


Multiple Pulmonary Nodules

description: Multiple, small, round or oval, benign or malignant growths in the lung(s), which can be due to infectious, inflammatory, or neoplastic processes.


actinic keratosis

description: A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants.


purpura fulminans

description: A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation.


primary myelofibrosis

description: Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.


pulmonary aspergilloma

description: A aspergillosis that involves the lung.


Invasive pulmonary aspergillosis

description: Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.


neoplastic meningitis

description: Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia and arachnoid) and subarachnoid space. The most common primary tumors metastasizing to the leptomeninges are breast and lung carcinomas, melanoma, aggressive non-Hodgkin lymphoma, and acute lymphocytic leukemia.


Sarcopenia

description: A reduction in muscle mass and function that is associated with aging or disuse.


microscopic polyangiitis

description: Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.


name: intervertebral disk degenerative disorder

description: Any disease of a degenerative nature that affects the intervertebral disk.


Aspirin-induced asthma

description: A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.


Alien limb phenomenon

description: Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.


latent tuberculosis infection

description: Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives.


multibacillary leprosy

description: A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response.


name: acute generalized exanthematous pustulosis

description: A widespread acute rash characterized by fever and multiple small pustules on a reddish background.


2-HYDROXYBUTYRIC ACID

A hydroxybutyric acid having a single hydroxyl group located at position 2; urinary secretion of 2-hydroxybutyric acid is increased with alcohol ingestion or vigorous physical exercise and is associated with lactic acidosis and ketoacidosis in humans and diabetes in animals.


A member of the class of furans that is furan in which the hydrogen at position 3 is replaced by a methyl group. It is a chemical that is produced in foods during food processing and preservation techniques that involve heat treatment such as cooking and pasteurization.


3-methylglutaric acid

An alpha,omega-dicarboxylic acid that is glutaric acid substituted at position 3 by a methyl group.


acetohydrazide

A carbohydrazide that is hydrazine in which one of the hydrogens is replaced by an acetyl group.


alkaloid

Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is  exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids.


CAMPHENE

A monoterpene with a bicyclic skeleton that is bicyclo[2.2.1]heptane substituted by geminal methyl groups at position 2 and a methylidene group at position 3. It is a widespread natural product found in many essential oils.


ERUCIC ACID

A docosenoic acid having a cis- double bond at C-13. It is found particularly in brassicas - it is a major component of mustard and rapeseed oils and is produced by broccoli, Brussels sprouts, kale, and wallflowers.


A chloroethanol carrying a chloro substituent at position 2.


ibufenac

A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens is replaced by a 4-isobutylphenyl group. Although it was shown to be effective in treatment of rheumatoid arthritis, the clinical use of ibufenac was discontinued due to hepatotoxic side-effects.


PENTACHLOROETHANE

A member of the class of chloroethanes that is ethane in which five of the six hydrogens are replaced by chlorines. A non-flammable, high-boiling liquid (b.p. 161-162degreeC) with relative density 1.67 and an odour resembling that of chloroform, it is used as a solvent for oil and grease, in metal cleaning, and in the separation of coal from impurities.


name: sodium p-perfluorous nonenoxybenzene sulfonate


sulfamethizole

A sulfonamide consisting of a 1,3,4-thiadiazole nucleus with a methyl substituent at C-5 and a 4-aminobenzenesulfonamido group at C-2.


TEMPO

A member of the class of aminoxyls that is piperidine that carries an oxidanediyl group at position 1 and  methyl groups at positions 2, 2, 6, and 6, respectively.


TRYPAN BLUE

An organosulfonate salt that is the tetrasodium salt of 3,3'-[(3,3'-dimethylbiphenyl-4,4'-diyl)didiazene-2,1-diyl]bis(5-amino-4-hydroxynaphthalene-2,7-disulfonic acid).


drug-induced hepatitis

description: Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite.


acute chest syndrome

description: A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia.


name: anti-neutrophil cytoplasmic antibody-associated vasculitis

description: Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.


vulvodynia

description: Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.


rheumatoid vasculitis

description: Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex.


propionic acidemia

description: Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.


autoimmune lymphoproliferative syndrome

description: Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.


Alstrom syndrome

description: A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.


urea cycle disorder

description: A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.


hereditary angioedema type 3

description: Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


Hereditary Angioedema Types I and II

description: Autosomal dominant inherited disorders characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites. In type I hereditary angioedema, the plasma levels of C1 inhibitor are decreased. In type II hereditary angioedema, the C1 inhibitor is dysfunctional and its plasma levels may be normal or elevated.


central serous chorioretinopathy

description: Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.


Renal Colic

description: Paroxysmal and severe flank pain radiating to the inguinal area. It is caused by the passage of a kidney stone through the ureter.


Barth syndrome

description: Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.


cardiolipin

A phosphatidylglycerol composed of two molecules of phosphatidic acid covalently linked to a molecule of glycerol.


Liddle syndrome

description: A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.


anterolateral myocardial infarction

description: Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.


thrombotic microangiopathy

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


low tension glaucoma

description: A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.


DINOPHYSISTOXIN 1

A ketal that is a marine toxin structurally related to okadaic acid.  Produced by dinoflagellates it is known to accumulate in shellfish and cause diarrhoeic shellfish poisoning. It is an inhibitor of serine/threonine protein phosphatases 1 (PP1) and PP2A and has been shown to promote cancer cell growth in tumour cell lines and animal models.


Corneal perforation

description: A rupture of the cornea through which a portion of the iris protrudes.


frontotemporal dementia

description: Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.


body dysmorphic disorder

description: Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning.


Kashin-Beck disease

description: Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.


tetraploidy syndrome

description: The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.


Striae distensae

description: Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.


Dent disease

description: Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.


cilastatin

The thioether resulting from the formal oxidative coupling of the thiol group of L-cysteine with the 7-position of (2Z)-2-({[(1S)-2,2-dimethylcyclopropyl]carbonyl}amino)hept-2-enoic acid. It is an inhibitor of dehydropeptidase I (membrane dipeptidase, 3.4.13.19), an enzyme found in the brush border of renal tubes and responsible for degrading the antibiotic imipenem. Cilastatin is therefore administered (as the sodium salt) with  imipenem to prolong the antibacterial effect of the latter by preventing its renal metabolism to inactive and potentially nephrotoxic products. Cilastatin also acts as a leukotriene D4 dipeptidase inhibitor, preventing the metabolism of leukotriene D4 to leukotriene E4.


L-isoleucine

The L-enantiomer of isoleucine.


MANOALIDE

A sesterterpenoid isolated from the marine sponge Luffariella variabilis and which has been shown to exhibit inhibitory activity towards phospholipase A2.


Senile plaques

description: Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.


candidiasis, invasive

description: A fungal infection by any of the Candida species in a sterile body compartment.


candidemia

description: A form of invasive candidiasis where species of candida are present in the blood.


desmoplastic small round cell tumor

description: Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.


hypertensive retinopathy

description: Retinopathy due to hypertension.


46,XY disorder of sex development

description: Differences of sex development in individuals with 46,XY karyotype.


Smith-Magenis syndrome

description: Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.


Aicardi syndrome

description: Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.


Neurological ventriculitis

description: Inflammation of a cerebral ventricle.


arthritis, sacroiliac

description: Inflammation of the sacroiliac joint, generally accompanied by lower back pain.


chronic liver failure

description: Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition.


megalencephaly

description: A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).


hematologic agent

Drug that acts on blood and blood-forming organs and those that affect the hemostatic system.


Exsanguination

description: Extensive loss of blood due to internal or external hemorrhage.


Aberrant Crypt Focus

description: A larger than normal, microscopically elevated colonic crypt that may contain dysplastic epithelium.  It is considered as a possible precursor of colonic adenoma and carcinoma.


Osteoporotic Fractures

description: A pathologic bone fracture due to osteoporosis. It is generally caused by a fall from a standing height or lower and usually involves the spine, hip, or wrist.


inflammatory breast carcinoma

description: An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma.


Insufficient Anesthesia

description: A state of consciousness that permits the formation of explicit and implicit memories while under general anesthesia.


NNC 55-0396 dihydrochloride

The dihydrochloride salt of NNC 55-0396. It is a stable analogue of mibefradil and a highly selective T-type calcium channel blocker.


Tachypnea

description: Very rapid breathing.


otomycosis

description: Fungus infection of the external ear, usually by aspergillus species


cardio-renal syndrome

description: A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.


Peripheral Nerve Injuries

description: Sensory or motor loss of peripheral nerve function due to a traumatic event. (ACC)


Chronic pain

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


Musculoskeletal Pain

description: Pain that originates in the bones, muscles, tendons or ligaments.


Mastalgia

description: Pain in the breast.


Polydipsia

description: Excessive thirst manifested by excessive fluid intake.


Acute Pain

description: A sensation of discomfort or distress that has a severe or rapid onset.


Stable angina

description: Angina pectoris which has not recently changed in frequency, duration or intensity. Stable angina pectoris is relieved by rest or administration or oral, sublingual or transdermal antianginal medications.


phaeohyphomycosis

description: An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions.


fusariosis

description: Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.


amorolfine

A member of the class of morpholines that is cis-2,6-dimethylmorpholine in which the hydrogen attached to the nitrogen is replaced by a racemic 2-methyl-3-[p-(2-methylbutan-2-yl)phenyl]propyl group. An inhibitor of the action of squalene monooxygenase, Delta(14) reductase and D7-D8 isomerase and an antifungal agent, it is used (generally as its hydrochloride salt) for the topical treatment of fungal nail and skin infections.


hyalohyphomycosis

description: An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host.


hand-foot syndrome

description: A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents.


Vascular calcification

description: Abnormal calcification of the vasculature.


Micrometastasis

description: Metastasis in the form of small clusters of malignant cells identifiable only under the microscope.


premature ejaculation

description: A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it.


cholinesterase reactivator

A drug used to reverse the inactivation of cholinesterase caused by organophosphates or sulfonates.


diacetylmonoxime

A ketoxime obtained via formal condensation of butane-2,3-dione with hydroxylamine. It is a reversible myosin ATPase inhibitor.


Drug Overdose

description: Exposure to, or intake of, an excessive amount of a substance.


neurotransmitter agent

A substance used for its pharmacological action on any aspect of neurotransmitter systems. Neurotransmitter agents include agonists, antagonists, degradation inhibitors, uptake inhibitors, depleters, precursors, and modulators of receptor function.


adenomyosis

description: The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia.


name: drug rash with eosinophilia and systemic symptoms

description: DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.


castration-resistant prostate carcinoma

description: A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.


Febrile Neutropenia

description: Neutropenia associated with fever, the latter indicating the presence of an infection.


Adverse drug response

description: An unpleasant or harmful reaction resulting from treatment with a drug.


N'-acetylisoniazid

A carbohydrazide resulting from the formal condensation of the carboxy group of isonicotinic acid with hydrazine and subsequent acetylation of the monosubstituted nitrogen atom.


dyclonine

N-Ethylpiperidine in which one of the hydrogens attached to the methyl group is substituted by a 4-butoxybenzoyl group.


MITOMYCIN A

A member of the family of mitomycins that exhibits antibiotic and antitumour properties as well as a high level of toxicity.


triple-negative breast carcinoma

description: An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).


An organic heterotetracyclic compound that is 5-oxo-5H-[1,3]benzothiazolo[3,2-a][1,8]naphthyridine-6-carboxylic acid substituted by a 4-methyl-1,4-diazepan-1-yl group at position 2 and in which the carboxy group at position 6 is substituted by a [(5-methylpyrazin-2-yl)methyl]nitrilo group. An inhibitor of ribosomal RNA (rRNA) synthesis which specifically inhibits RNA polymerase I-driven transcription of rRNA in several cancer cell lines. It is currently in phase I/II clinical trials for advanced hematologic malignancies and triple-negative breast cancer with BRCA1/2 mutation.


CARBOXYNAPHTHOL

A naphthoic acid with the carboxy group at position 2 and carrying a hydroxy substituent at the 1-position. It is a  xenobiotic metabolite produced by the biodegradation of phenanthrene by microorganisms.


fluxapyroxad

An aromatic amide obtained by formal condensation of the carboxy group of 3-(difluoromethyl)-1-methylpyrazole-4-carboxylic acid with the amino group of 3',4',5'-trifluorobiphenyl-2-amine. Used to control a number of cereal fungal pathogens including those belonging to the Ascomycetes, Basidiomycetes and Zygomycetes families.


Corneal scarring

description: Trauma to the cornea of the eye.


name: Metabolic Side Effects of Drugs and Substances


omaveloxolone

A semi-synthetic triterpenoid drug. It is an Nrf2 activator that is approved for the treatment of Friedreich's ataxia in adults and adolescents aged 16 years and older.


BETA-EUDESMOL

A carbobicyclic compound that is trans-decalin substituted at positions 2, 4a, and 8 by 2-hydroxypropan-2-yl, methyl and methylidene groups, respectively (the 2R,4aR,8aS-diastereoisomer).


chikungunya

description: An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia.


name: thyroid gland undifferentiated (anaplastic) carcinoma

description: A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive.


Mesenteric venous thrombosis

description: A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).


atypical hemolytic-uremic syndrome

description: A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.


Cardiotoxicity

description: Toxicity that impairs or damages the heart. This condition is often caused by the administration of a pharmaceutical agent that initiates a poisonous or toxic response in cardiac tissue.


spermatogenic failure 6

description: Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.


name: amyotrophic lateral sclerosis-parkinsonism-dementia complex


tobacco addiction, susceptibility to

description: An inherited susceptibility or predisposition to developing nicotine dependence.


name: PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL


name: asthma-related traits, susceptibility to, 8


name: hearing loss, cisplatin-induced, susceptibility to


myostatin-related muscle hypertrophy

description: Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.


A member of the class of furans that is furan in which the hydrogen atom at position 2 has been replaced by an ethyl group.


name: ATP-dependent Clp protease proteolytic subunit, mitochondrial, signal peptide removed form

description: An ATP-dependent Clp protease proteolytic subunit, mitochondrial that has had the signal peptide removed.


name: Grade 3 Intestinal Stoma Site Bleeding, CTCAE

description: Transfusion indicated; invasive intervention indicated


Intestinal Stoma Site Bleeding, CTCAE

description: A disorder characterized by bleeding from the intestinal stoma.


name: Grade 1 Intestinal Stoma Site Bleeding, CTCAE

description: Minimal bleeding identified on clinical exam; intervention not indicated


name: Grade 5 Intestinal Stoma Site Bleeding, CTCAE

description: Death


name: Grade 2 Intestinal Stoma Site Bleeding, CTCAE

description: Moderate bleeding; medical intervention indicated


name: Grade 4 Intestinal Stoma Site Bleeding, CTCAE

description: Life-threatening consequences; urgent intervention indicated


name: NHR90_CAEEL Nuclear hormone receptor family member nhr-90 (sprot)

description: A protein that is a translation product of the nhr-90 gene in worm.


DNA-3-methyladenine glycosylase 2

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


name: 3MG2_ECOLI DNA-3-methyladenine glycosylase 2 (sprot)

description: A DNA-3-methyladenine glycosylase 2 that is encoded in the genome of Escherichia coli K-12.


name: DNA-(apurinic or apyrimidinic site) endonuclease, initiator methionine removed form

description: A DNA-(apurinic or apyrimidinic site) endonuclease that has had the initiator methionine removed.


name: DNA-(apurinic or apyrimidinic site) endonuclease, initiator methionine removed form (human)

description: A DNA-(apurinic or apyrimidinic site) endonuclease (human) that has had the initiator methionine removed. UniProtKB:P27695, 2-318.


name: RS10B_YEAST Small ribosomal subunit protein eS10B (sprot)

description: A protein that is a translation product of the RPS10B gene in yeast.


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.)


name: eukaryotic translation initiation factor 4E phosphorylated 1 (human)

description: A eukaryotic translation initiation factor 4E (human) that has been phosphorylated on the residue at the position equivalent to Ser-53 of the amino acid sequence represented by UniProtKB:P06730-1. Example: UniProtKB:P06730-1, Ser-53, MOD:00046.


AXIN1_DANRE Axin-1 (sprot)

An Axin-1 that is encoded in the genome of zebrafish.


An Axin that is a translation product of the human AXIN1 gene or a 1:1 ortholog thereof.


Axin-1 isoform 2 (rat)

An Axin-1 isoform 2 that is encoded in the genome of rat.


AXIN1_CHICK Axin-1 (sprot)

An Axin-1 that is encoded in the genome of chicken.


Axin-1 isoform 1 (human)

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


Axin-1 ubiquitinated 1 (human)

An Axin-1 (human) that has been ubiquitinated on the residue at the position equivalent to Lys-501 of the amino acid sequence represented by UniProtKB:O15169. UniProtKB:O15169, Lys-501, MOD:01148.


Axin-1 sequence variant L396M (human)

An Axin-1 (human) that has a Met residue at the position equivalent to Leu-396 of the amino acid sequence represented by UniProtKB:O15169-1. Example: UniProtKB:O15169-1, Leu-396, CHEBI:16044.


AXN_DROME Axin (sprot)

An Axin-1 that is encoded in the genome of fruit fly.


Axin-1 ADP-ribosylated form (human)

An Axin-1 (human) that includes at least one ADP-ribosylated residue. UniProtKB:O15169, MOD:00752.


Axin-1 isoform 1

An Axin-1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O35625-1 or a 1:1 ortholog thereof.


Axin-1 isoform 2 (human)

An Axin-1 isoform 2 that is encoded in the genome of human.


AXIN1_MOUSE Axin-1 (sprot)

An Axin-1 that is encoded in the genome of mouse.


Axin-1 phosphorylated 1 (human)

An Axin-1 (human) that has been phosphorylated on the residue at the position equivalent to Thr-481, and phosphoserine at positions 486 and 493 of the amino acid sequence represented by UniProtKB:O15169. UniProtKB:O15169, Thr-481, MOD:00047|Ser-486/Ser-493, MOD:00046.


Axin-1 isoform 1 (mouse)

An Axin-1 isoform 1 that is encoded in the genome of mouse.


Axin-1 isoform 2 (mouse)

An Axin-1 isoform 2 that is encoded in the genome of mouse.


Axin-1 sequence variant Y346* (human)

An Axin-1 (human) that has has been truncated after the position equivalent to Pro-345 of the amino acid sequence represented by UniProtKB:O15169-1. Example: UniProtKB:O15169-1, 1-345.


AXIN1_RAT Axin-1 (sprot)

An Axin-1 that is encoded in the genome of rat.


name: Axin-1 ADP-ribosylated and ubiquitinated form (human)

description: An Axin-1 (human) that includes at least one ADP-ribosylated residue and at least one ubiquitinated lysine. UniProtKB:O15169, MOD:00752|MOD:01148.


Axin-1 isoform 2

An Axin-1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O35625-2 or a 1:1 ortholog thereof.


Axin-1 sequence variant R354L (human)

An Axin-1 (human) that has a Leu residue at the position equivalent to Arg-354 of the amino acid sequence represented by UniProtKB:O15169-1. Example: UniProtKB:O15169-1, Arg-354, CHEBI:30006.


Axin-1 sequence variant W247* (human)

An Axin-1 (human) that has has been truncated after the position equivalent to Glu-246 of the amino acid sequence represented by UniProtKB:O15169-1. Example: UniProtKB:O15169-1, 1-246.


AXIN1_HUMAN Axin-1 (sprot)

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


Axin-1 sequence variant E255S (human)

An Axin-1 (human) that has a Ser residue at the position equivalent to Glu-255 of the amino acid sequence represented by UniProtKB:O15169-1. Example: UniProtKB:O15169-1, Glu-255, CHEBI:29999.


Axin-1 sequence variant E406* (human)

An Axin-1 (human) that has has been truncated after the position equivalent to Ala-405 of the amino acid sequence represented by UniProtKB:O15169-1. Example: UniProtKB:O15169-1, 1-405.


name: TOM40_MOUSE Mitochondrial import receptor subunit TOM40 homolog (sprot)

description: A mitochondrial import receptor subunit TOM40 that is encoded in the genome of mouse.


name: circadian locomoter output cycles protein kaput cysteinylated 1 (human)

description: A circadian locomoter output cycles protein kaput (human) that has been cysteinylated on the residue at the position equivalent to Cys-337 of the amino acid sequence represented by UniProtKB:O15516. UniProtKB:O15516, Cys-337, MOD:00765.


name: zinc-alpha-2-glycoprotein N-glycosylated 33 (human)

description: A zinc-alpha-2-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-128 of the amino acid sequence represented by UniProtKB:P25311-1, in which the glycan composition is represented by GlyTouCan:G60923RB. Example: UniProtKB:P25311-1, Asn-128, MOD:00160~GNO:G60923RB.


name: GUC2G_MOUSE Guanylate cyclase 2G (sprot)

description: A guanylate cyclase 2G that is encoded in the genome of mouse.


guanylate cyclase 2G

A protein that is a translation product of the mouse Gucy2g gene or a 1:1 ortholog thereof.


guanylate cyclase 2G isoform r1 (rat)

A guanylate cyclase 2G (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55205-1.


GUC2G_RAT Guanylate cyclase 2G (sprot)

A guanylate cyclase 2G that is encoded in the genome of rat.


guanylate cyclase 2G isoform r2 (rat)

A guanylate cyclase 2G (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55205-2.


An amino tetrasaccharide consisting of beta-D-galactopyranosyl, 2-acetamido-2-deoxy-alpha-D-glucopyranosyl, beta-D-galactopyranosyl and alpha-D-glucopyranose residues joined in sequence by (1->4), (1->3) and (1->4) glycosidic linkages.


Dianion of 3'-dephospho-CoA.


name: microtubule-associated protein 9 isoform m2 (mouse)

description: A microtubule-associated protein 9 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q3TRR0-2.


name: GAOX3_ARATH Gibberellin 20 oxidase 3 (sprot)

description: A protein that is a translation product of the GA20OX3 gene in Arabidopsis thaliana.


name: GGTB2_CAEEL Probable geranylgeranyl transferase type-2 subunit beta (sprot)

description: A geranylgeranyl transferase type-2 subunit beta that is encoded in the genome of worm.


name: probable geranylgeranyl transferase type-2 subunit beta isoform a (worm)

description: A probable geranylgeranyl transferase type-2 subunit beta (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P41992-1.


name: probable geranylgeranyl transferase type-2 subunit beta isoform b (worm)

description: A probable geranylgeranyl transferase type-2 subunit beta (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P41992-2.


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.


A N-oxide isolated from Streptoalloteichus sp.1454-19. It is a siderophore which exhibits immunosuppressive activity on a mixed lymphocyte culture reaction (MLCR).


name: myasthenic syndrome, congenital, 23, presynaptic


name: nephrolithiasis susceptibility caused by SLC26A1


name: YDS4_SCHPO Brix domain-containing protein C4F8.04 (sprot)

description: A ribosome production factor 1 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


name: LOX15_RABIT Polyunsaturated fatty acid lipoxygenase ALOX15 (sprot)

description: A protein that is a translation product of the ALOX15 gene in rabbit.


name: SCY1-like protein 2 methylated 1 (human)

description: A SCY1-like protein 2 (human) that has been methylated on the residue at the position equivalent to Cys-375 of the amino acid sequence represented by UniProtKB:Q6P3W7. UniProtKB:Q6P3W7, Cys-375, MOD:00660.


name: Y9702_DICDI Uncharacterized protein DDB_G0269702 (sprot)

description: A protein that is a translation product of the DDB_G0269702 gene in Dictyostelium discoideum.


name: serine/threonine-protein kinase VRK2 isoform h4 (human)

description: A serine/threonine-protein kinase VRK2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86Y07-4.


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)


prolargin O-glycosylated 6 (human)

A prolargin (human) that has been O-glycosylated at the residue equivalent to Thr-56 of the amino acid sequence represented by UniProtKB:P51888-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P51888-1, Thr-56, MOD:00005~GNO:G53434XO.


name: UROK_CHICK Urokinase-type plasminogen activator (sprot)

description: A urokinase-type plasminogen activator that is encoded in the genome of chicken.


name: UGDH4_ARATH UDP-glucose 6-dehydrogenase 4 (sprot)

description: A protein that is a translation product of the UGD4 gene in Arabidopsis thaliana.


name: probable ATP-dependent RNA helicase DDX46 isoform m1 (mouse)

description: A probable ATP-dependent RNA helicase DDX46 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q569Z5-1.


name: potassium voltage-gated channel subfamily H member 5 isoform 3 (human)

description: A voltage-gated potassium channel KCNH5 isoform 3 that is encoded in the genome of human.


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.


mucin-1 O-glycosylated 9 (human)

A mucin-1 (human) that has been O-glycosylated at the residue equivalent to Thr-919 of the amino acid sequence represented by UniProtKB:P15941-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P15941-1, Thr-919, MOD:00005~GNO:G58001LT.


name: ETS domain-containing transcription factor ERF isoform h2 (human)

description: An ETS domain-containing transcription factor ERF (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P50548-2.


name: heat shock protein 105 kDa deaminated 2 (human)

description: A heat shock protein 105 kDa (human) that has been deaminated on the residue at the position equivalent to Asn-96 of the amino acid sequence represented by UniProtKB:Q92598-1. Example: UniProtKB:Q92598-1, Asn-96, MOD:00684.


HSPH protein

An Hsp70 family chaperone that has its ATP-binding and substrate-binding domains separated by a linker domain of over 100 amino acids. Proteins in this class function generally as nucleotide exchange factors for cytosolic Hsp70s.


heat shock protein homolog SSE1

A heat shock protein SSE that is a translation product of the yeast SSE1 gene or a 1:1 ortholog thereof.


name: heat shock protein 105 kDa isoform Beta (human)

description: A heat shock protein 105 kDa isoform 2 that is encoded in the genome of human.


name: HS105_BOVIN Heat shock protein 105 kDa (sprot)

description: A heat shock protein 105 kDa that is encoded in the genome of cow.


heat shock 70 kDa protein 4 isoform 1

A heat shock 70 kDa protein 4 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P34932-1 or a 1:1 ortholog thereof.


name: HS74L_RAT Heat shock 70 kDa protein 4L (Fragments) (sprot)

description: A heat shock 70 kDa protein 4L that is encoded in the genome of rat.


name: heat shock 70 kDa protein 4 methylated 1 (human)

description: A heat shock 70 kDa protein 4 (human) that has been methylated on the residue at the position equivalent to Cys-270 of the amino acid sequence represented by UniProtKB:P34932-1. Example: UniProtKB:P34932-1, Cys-270, MOD:00660.


name: heat shock protein 105 kDa isoform HSP105-beta (mouse)

description: A heat shock protein 105 kDa (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q61699-2.


name: heat shock protein 105 kDa methylated 1 (human)

description: A heat shock protein 105 kDa (human) that has been methylated on the residue at the position equivalent to Cys-167 of the amino acid sequence represented by UniProtKB:Q92598-1. Example: UniProtKB:Q92598-1, Cys-167, MOD:00660.


name: heat shock protein 105 kDa methylated 3 (human)

description: A heat shock protein 105 kDa (human) that has been methylated on the residue at the position equivalent to Cys-658 of the amino acid sequence represented by UniProtKB:Q92598-1. Example: UniProtKB:Q92598-1, Cys-658, MOD:00660.


name: HSP79_YEAST Heat shock protein homolog SSE2 (sprot)

description: A heat shock protein homolog SSE2 that is encoded in the genome of yeast.


heat shock 70 kDa protein 4L

An HSPH protein that is a translation product of the human HSPA4L gene or a 1:1 ortholog thereof.


name: heat shock 70 kDa protein 4 isoform 1 (human)

description: A heat shock 70 kDa protein 4 isoform 1 that is encoded in the genome of human.


name: heat shock 70 kDa protein 4 isoform h2 (human)

description: A heat shock 70 kDa protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P34932-2.


name: heat shock protein 105 kDa cysteinylated 1 (human)

description: A heat shock protein 105 kDa (human) that has been cysteinylated on the residue at the position equivalent to Cys-213 of the amino acid sequence represented by UniProtKB:Q92598-1. Example: UniProtKB:Q92598-1, Cys-213, MOD:00765.


name: HSP7F_YEAST Heat shock protein homolog SSE1 (sprot)

description: A heat shock protein homolog SSE1 that is encoded in the genome of yeast.


name: heat shock 70 kDa protein 4 isoform 1 (rat)

description: A heat shock 70 kDa protein 4 isoform 1 that is encoded in the genome of rat.


name: heat shock 70 kDa protein 4L isoform m2 (mouse)

description: A heat shock 70 kDa protein 4L (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48722-2.


name: heat shock 70 kDa protein 4 cysteinylated 1 (human)

description: A heat shock 70 kDa protein 4 (human) that has been cysteinylated on the residue at the position equivalent to Cys-270 of the amino acid sequence represented by UniProtKB:P34932-1. Example: UniProtKB:P34932-1, Cys-270, MOD:00765.


name: heat shock 70 kDa protein 4L methylated 2 (human)

description: A heat shock 70 kDa protein 4L (human) that has been methylated on the residue at the position equivalent to Cys-376 of the amino acid sequence represented by UniProtKB:O95757. UniProtKB:O95757, Cys-376, MOD:00660.


name: heat shock protein 105 kDa isoform Alpha (human)

description: A heat shock protein 105 kDa isoform 1 that is encoded in the genome of human.


name: heat shock protein 105 kDa deaminated 1 (human)

description: A heat shock protein 105 kDa (human) that has been deaminated on the residue at the position equivalent to Gln-116 of the amino acid sequence represented by UniProtKB:Q92598-1. Example: UniProtKB:Q92598-1, Gln-116, MOD:00685.


name: HS105_CRIGR Heat shock protein 105 kDa (sprot)

description: A heat shock protein 105 kDa that is encoded in the genome of Chinese hamster.


heat shock protein 105 kDa isoform 2

A heat shock protein 105 kDa that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92598-2 or a 1:1 ortholog thereof.


heat shock protein SSE

An HSPH protein that is a translation product of the yeast SSE1 or SSE2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof.


name: heat shock protein 105 kDa isoform h4 (human)

description: A heat shock protein 105 kDa (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92598-4.


name: heat shock protein 105 kDa isoform HSP105-alpha (mouse)

description: A heat shock protein 105 kDa (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q61699-1.


name: HS105_HUMAN Heat shock protein 105 kDa (sprot)

description: A heat shock protein 105 kDa that is encoded in the genome of human.


name: heat shock 70 kDa protein 4L methylated 1 (human)

description: A heat shock 70 kDa protein 4L (human) that has been methylated on the residue at the position equivalent to Cys-270 of the amino acid sequence represented by UniProtKB:O95757. UniProtKB:O95757, Cys-270, MOD:00660.


heat shock protein 105 kDa isoform 1

A heat shock protein 105 kDa that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92598-1 or a 1:1 ortholog thereof.


name: heat shock 70 kDa protein 4 methylated 2 (human)

description: A heat shock 70 kDa protein 4 (human) that has been methylated on the residue at the position equivalent to Cys-779 of the amino acid sequence represented by UniProtKB:P34932-1. Example: UniProtKB:P34932-1, Cys-779, MOD:00660.


name: HS74L_HUMAN Heat shock 70 kDa protein 4L (sprot)

description: A heat shock 70 kDa protein 4L that is encoded in the genome of human.


name: heat shock protein 105 kDa deaminated 3 (human)

description: A heat shock protein 105 kDa (human) that has been deaminated on the residue at the position equivalent to Asn-61 of the amino acid sequence represented by UniProtKB:Q92598-1. Example: UniProtKB:Q92598-1, Asn-61, MOD:00684.


name: heat shock protein 105 kDa isoform h3 (human)

description: A heat shock protein 105 kDa (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92598-3.


name: heat shock 70 kDa protein 4 cysteinylated 2 (human)

description: A heat shock 70 kDa protein 4 (human) that has been cysteinylated on the residue at the position equivalent to Cys-213 of the amino acid sequence represented by UniProtKB:P34932-1. Example: UniProtKB:P34932-1, Cys-213, MOD:00765.


heat shock protein 105 kDa

An HSPH protein that is a translation product of the human HSPH1 gene or a 1:1 ortholog thereof.


name: heat shock 70 kDa protein 4L isoform m1 (mouse)

description: A heat shock 70 kDa protein 4L (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48722-1.


name: heat shock protein 105 kDa methylated 2 (human)

description: A heat shock protein 105 kDa (human) that has been methylated on the residue at the position equivalent to Cys-213 of the amino acid sequence represented by UniProtKB:Q92598-1. Example: UniProtKB:Q92598-1, Cys-213, MOD:00660.


name: HSP74_RAT Heat shock 70 kDa protein 4 (sprot)

description: A heat shock 70 kDa protein 4 that is encoded in the genome of rat.


name: HSP74_HUMAN Heat shock 70 kDa protein 4 (sprot)

description: A heat shock 70 kDa protein 4 that is encoded in the genome of human.


name: HS74L_MOUSE Heat shock 70 kDa protein 4L (sprot)

description: A heat shock 70 kDa protein 4L that is encoded in the genome of mouse.


name: HS105_RAT Heat shock protein 105 kDa (sprot)

description: A heat shock protein 105 kDa that is encoded in the genome of rat.


heat shock 70 kDa protein 4

An HSPH protein that is a translation product of the human HSPA4 gene or a 1:1 ortholog thereof.


name: HSP74_MOUSE Heat shock 70 kDa protein 4 (sprot)

description: A heat shock 70 kDa protein 4 that is encoded in the genome of mouse.


name: A4UTN7_PIG Heat shock protein 105 kDa (trembl)

description: A heat shock protein 105 kDa that is encoded in the genome of pig.


heat shock protein homolog SSE2

A heat shock protein SSE that is a translation product of the yeast SSE2 gene or a 1:1 ortholog thereof.


name: HS105_MOUSE Heat shock protein 105 kDa (sprot)

description: A heat shock protein 105 kDa that is encoded in the genome of mouse.


name: heat shock 70 kDa protein 4L cysteinylated 1 (human)

description: A heat shock 70 kDa protein 4L (human) that has been cysteinylated on the residue at the position equivalent to Cys-270 of the amino acid sequence represented by UniProtKB:O95757. UniProtKB:O95757, Cys-270, MOD:00765.


14-3-3 protein gamma isoform 1

A 14-3-3 protein gamma that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P61981-1 or a 1:1 ortholog thereof.


name: 14-3-3 protein gamma isoform 1 (chicken)

description: A 14-3-3 protein gamma isoform 1 that is encoded in the genome of chicken.


14-3-3 protein gamma isoform 1 (human)

A 14-3-3 protein gamma isoform 1 that is encoded in the genome of human.


14-3-3 protein gamma isoform 1 (mouse)

A 14-3-3 protein gamma isoform 1 that is encoded in the genome of mouse.


14-3-3 protein gamma isoform 1 (rat)

A 14-3-3 protein gamma isoform 1 that is encoded in the genome of rat.


name: Ral guanine nucleotide dissociation stimulator-like 3 isoform h1 (human)

description: A Ral guanine nucleotide dissociation stimulator-like 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q3MIN7-1.


cystoid macular edema

description: An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.


name: ASTE_ECOLI Succinylglutamate desuccinylase (sprot)

description: A succinylglutamate desuccinylase that is encoded in the genome of Escherichia coli K-12.


name: collagen alpha-1(XVI) chain, signal peptide removed 3-hydroxy-proline, 4-hydroxy-proline, and galactosylhydroxylysine form (human)

description: A collagen alpha-1(XVI) chain (human) that has had the signal peptide removed and that includes at least 1 3-hydroxy-proline, at least 1 galactosylhydroxylated lysine, and at least 3 4-hydroxy-prolines. Example: UniProtKB:Q07092-1, 22-1604, MOD:00038|MOD:00039(3+)|MOD:01914.


adiponectin O-glycosylated 1 (human)

An adiponectin (human) that has been O-glycosylated at the residue equivalent to Thr-21 of the amino acid sequence represented by UniProtKB:Q15848-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:Q15848-1, Thr-21, MOD:00005~GNO:G53434XO.


name: DnaJ homolog subfamily C member 12 isoform a (human)

description: A DnaJ homolog subfamily C member 12 isoform 1 that is encoded in the genome of human.


name: protein N-terminal glutamine amidohydrolase cysteinylated 1 (human)

description: A protein N-terminal glutamine amidohydrolase (human) that has been cysteinylated on the residue at the position equivalent to Cys-50 of the amino acid sequence represented by UniProtKB:Q96HA8-1. Example: UniProtKB:Q96HA8-1, Cys-50, MOD:00765.


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.


name: high mobility group protein 20A phosphorylated 1 (human)

description: A high mobility group protein 20A (human) that has been phosphorylated on the residue at the position equivalent to Ser-105 of the amino acid sequence represented by UniProtKB:Q9NP66-1. Example: UniProtKB:Q9NP66-1, Ser-105, MOD:00046.


name: alpha-N-acetylgalactosaminidase N-glycosylated 30 (human)

description: An alpha-N-acetylgalactosaminidase (human) that has been N-glycosylated at the residue equivalent to Asn-177 of the amino acid sequence represented by UniProtKB:P17050-1, in which the glycan structure is represented by GlyTouCan:G45359RY. Example: UniProtKB:P17050-1, Asn-177, MOD:00160~GNO:G45359RY.


name: UDP-glucuronosyltransferase 2B15 N-glycosylated 1 (human)

description: A UDP-glucuronosyltransferase 2B15 (human) that has been N-glycosylated at the residue equivalent to Asn-316 of the amino acid sequence represented by UniProtKB:P54855-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P54855-1, Asn-316, MOD:00160~GNO:G06247RL.


EMP47_YEAST Protein EMP47 (sprot)

A protein that is a translation product of the EMP47 gene in yeast.


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.


name: BCAS3 microtubule associated cell migration factor isoform h4 (human)

description: A BCAS3 microtubule associated cell migration factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H6U6-8.


name: BCAS3_HUMAN BCAS3 microtubule associated cell migration factor (sprot)

description: A BCAS3 microtubule associated cell migration factor that is encoded in the genome of human.


name: BCAS3 microtubule associated cell migration factor isoform h1 (human)

description: A BCAS3 microtubule associated cell migration factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H6U6-2.


name: BCAS3 microtubule associated cell migration factor phosphorylated 1 (human)

description: A BCAS3 microtubule associated cell migration factor (human) that has been phosphorylated on the residue at the position equivalent to Ser-180 of the amino acid sequence represented by UniProtKB:Q9H6U6-1. Example: UniProtKB:Q9H6U6-1, Ser-180, MOD:00046.


name: BCAS3 microtubule associated cell migration factor isoform 2 (human)

description: A BCAS3 microtubule associated cell migration factor isoform 1 that is encoded in the genome of human.


name: BCAS3 microtubule associated cell migration factor isoform h5 (human)

description: A BCAS3 microtubule associated cell migration factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H6U6-7.