dbGAP Gene-Trait Associations Dataset

Description gene-trait associations curated from genetic association studies
Measurement genetic association by data aggregation from genome-wide association and other genetic association studies
Association gene-trait associations curated from genetic association studies
Category disease or phenotype associations
Resource Database of Genotypes and Phenotypes
Citation(s)
Last Updated 2015 Apr 06
Stats
  1. 5668 genes
  2. 510 traits
  3. 12769 gene-trait associations

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trait Gene Sets

510 sets of genes associated with traits in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Gene Set Description
1-Alkyl-2-acetylglycerophosphocholine Esterase disease cluster belonging to disease group cardiovascular
Abdominal Fat disease cluster belonging to disease group metabolic
Acenocoumarol
Acetaminophen
Acquired Immunodeficiency Syndrome A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
Adiponectin
Adiposity disease cluster belonging to disease group metabolic
Aging A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death (GO:0016265) and may succeed developmental maturation (GO:0021700).
Alanine Transaminase disease cluster belonging to disease group metabolic
Albumins disease cluster belonging to disease group metabolic
Albuminuria The presence of albumin in the urine, an indicator of KIDNEY DISEASES.
Alcohol Drinking Behaviors associated with the ingesting of alcoholic beverages, including social drinking.
Alcoholism
Alkaline Phosphatase
Allopurinol A bicyclic structure comprising a pyrazole ring fused to a hydroxy-substituted pyrimidine ring.
Alopecia Areata A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
Alzheimer Disease A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.|A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.
Aminopeptidases
Amygdala The one of the four basal ganglia in each cerebral hemisphere that is part of the limbic system and consists of an almond-shaped mass of gray matter in the anterior extremity of the temporal lobe.
Amyloid beta-Peptides disease cluster belonging to disease group neurological
Amyotrophic Lateral Sclerosis A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
Anemia A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.
Anemia, Sickle Cell
Angiography
Angiotensin-Converting Enzyme Inhibitors disease cluster belonging to disease group other
Ankle Brachial Index Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE.|An alternative to the ankle-brachial index.
Anorexia Nervosa An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.
Anthropometry Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body.
Anticoagulants
Anticonvulsants
Antidepressive Agents disease cluster belonging to disease group pharmacogenomic
Antipsychotic Agents disease cluster belonging to disease group pharmacogenomic
Aorta The great arterial trunk that carries blood from the heart to be distributed by branch arteries through the body.
Aorta, Abdominal disease cluster belonging to disease group cardiovascular
Aortic Aneurysm, Abdominal
Aortic Aneurysm, Thoracic
Apolipoprotein A-I
Apolipoproteins B disease cluster belonging to disease group metabolic
Apolipoproteins C disease cluster belonging to disease group metabolic
Apolipoproteins E disease cluster belonging to disease group metabolic
Aromatase Inhibitors disease cluster belonging to disease group metabolic
Arrhythmias, Cardiac
Arteries
Arthritis, Juvenile Rheumatoid
Arthritis, Psoriatic
Arthritis, Rheumatoid
Aspartate Aminotransferases disease cluster belonging to disease group metabolic
Asperger Syndrome An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
Asthma A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.
Astigmatism Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed).
Atherosclerosis A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.
Atrial Fibrillation A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
Atrial Function, Left The hemodynamic and electrophysiological action of the LEFT ATRIUM.
Atrial Natriuretic Factor disease cluster belonging to disease group cardiovascular
Attention Deficit and Disruptive Behavior Disorders
Attention Deficit Disorder with Hyperactivity
Audiometry, Pure-Tone disease cluster belonging to disease group other
Autistic Disorder An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
Autoimmune Diseases
Azoospermia A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.
Basophils
Behavior, Addictive The observable, measurable, and often pathological activity of an organism that portrays its inability to overcome a habit resulting in an insatiable craving for a substance or for performing certain acts. The addictive behavior includes the emotional and physical overdependence on the object of habit in increasing amount or frequency.
Behcet Syndrome A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.
Benzodiazepines disease cluster belonging to disease group pharmacogenomic
Bilirubin A member of the class of biladienes that is a linear tetrapyrrole, product of heme degradation. It is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin.
Bipolar Disorder A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.|A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH).
Birth Weight The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.
Blood Cells disease cluster belonging to disease group hematological
Blood Coagulation Factor Inhibitors disease cluster belonging to disease group hematological
Blood Coagulation Factors disease cluster belonging to disease group hematological
Blood Flow Velocity disease cluster belonging to disease group cardiovascular
Blood Glucose
Blood Pressure PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
Blood Pressure Determination disease cluster belonging to disease group cardiovascular
Blood Proteins disease cluster belonging to disease group hematological
Blood Sedimentation Measurement of rate of settling of erythrocytes in anticoagulated blood.
Blood Urea Nitrogen disease cluster belonging to disease group metabolic
Blood Vessels disease cluster belonging to disease group cardiovascular
Blood Viscosity The internal resistance of the BLOOD to shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such as SICKLE CELL ANEMIA andPOLYCYTHEMIA.
Body Composition
Body Fat Distribution Deposits of ADIPOSE TISSUE throughout the body. The pattern of fat deposits in the body regions is an indicator of health status. Excess ABDOMINAL FAT increases health risks more than excess fat around the hips or thighs, therefore, WAIST-HIP RATIO is often used to determine health risks.
Body Height The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.
Body Mass Index An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)
Body Weight The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
Body Weight Changes disease cluster belonging to disease group metabolic
Body Weights and Measures Measurements of the height, weight, length, area, etc., of the human and animal body or its parts.
Bone Density The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.
Brachial Artery disease cluster belonging to disease group cardiovascular
Brain 1: The portion of the vertebrate central nervous system that constitutes the organ of thought and neural coordination, includes all the higher nervous centers receiving stimuli from the sense organs and interpreting and correlating them to formulate the motor impulses, is made up of neurons and supporting and nutritive structures, is enclosed within the skull, and is continuous with the spinal cord through the foramen magnum. Also named encephalon. 2: A nervous center in invertebrates comparable in position and function to the vertebrate brain.
Brain Mapping disease cluster belonging to disease group neurological
Brain Waves Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain.
Breast Neoplasms
Butyrylcholinesterase
C-Reactive Protein disease cluster belonging to disease group immune
Caffeine A trimethylxanthine in which the three methyl groups are located at positions 1, 3, and 7. A purine alkaloid that occurs naturally in tea and coffee.
Calcium
Calcium-Binding Proteins disease cluster belonging to disease group metabolic
Carbamazepine A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant.
carbohydrate-deficient transferrin [Supplementary Concept] trait belonging to MESH category other
Carcinoid Tumor A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.
Carcinoma, Basal Cell
Carcinoma, Hepatocellular
Carcinoma, Non-Small-Cell Lung
Carcinoma, Renal Cell
Cardiomegaly Increased size of the heart.
Cardiomyopathy, Dilated
Cardiovascular Diseases
Carotid Arteries A key artery located in the front of the neck that carries blood from the heart to the brain. Cholesterol plaques on the inner wall of the carotid artery can lead to stroke.
Carotid Artery Diseases
Carotid Artery, Internal disease cluster belonging to disease group cardiovascular
Carotid Stenosis
Caudate Nucleus One of the centrally-located portions of the brain affected by Huntington's Disease. Speech and swallowing problems arise when this region and another region called the putamen are affected.
CD40 Ligand
Celiac Disease A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.|A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.
Cell Adhesion Molecules disease cluster belonging to disease group cardiovascular
Central Nervous System The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord.
Cerebrum
Chemokine CCL2 disease cluster belonging to disease group immune
Chemokines
Cholangitis, Sclerosing
Cholesterol
Cholesterol, HDL
Cholesterol, LDL Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol.
Circadian Rhythm The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding.
Citalopram A racemate comprising equimolar amounts of (R)-citalopram and its enantiomer, escitalopram. It is used as an antidepressant, although only escitalopram is active.
Cleft Lip
Cleft Palate An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
Clozapine A benzodiazepine that is 5H-dibenzo[b,e][1,4]diazepine substituted by a chloro group at position 8 and a 4-methylpiperazin-1-yl group at position 11. It is a second generation antipsychotic used in the treatment of psychiatric disorders like schizophrenia.
Colitis, Ulcerative
Colonic Neoplasms
Colony-Forming Units Assay disease cluster belonging to disease group immune
Colorectal Neoplasms uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix.
Complement C4b-Binding Protein disease cluster belonging to disease group immune
Conduct Disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
Cornea The transparent part of the coat of the eyeball that covers the iris and pupil and admits light to the interior.
Corneal Topography The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty.
Coronary Artery Disease Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
Coronary Disease Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
Creatinine
Creutzfeldt-Jakob Syndrome
Crohn Disease An intestinal disease that involves inflammation located_in intestine.
Cystatin C
Cystatins
Cystic Fibrosis An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.
Cytomegalovirus Vaccines disease cluster belonging to disease group infection
Death, Sudden, Cardiac
Dehydroepiandrosterone An androstanoid that is androst-5-ene substituted by an beta-hydroxy group at position 3 and an oxo group at position 17. It is a naturally occurring steroid hormone produced by the adrenal glands.
Dehydroepiandrosterone Sulfate A steroid sulfate that is the 3-sulfate of dehydroepiandrosterone.
Dengue Hemorrhagic Fever A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever.
Dental Caries Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification.
Depression A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure.
Depressive Disorder A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure.
Depressive Disorder, Major
Dermatitis, Atopic
Diabetes Mellitus A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.|A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
Diabetes Mellitus, Type 1
Diabetes Mellitus, Type 2
Diabetes, Gestational
Diabetic Nephropathies
Diabetic Retinopathy Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION.
DNA
Docosahexaenoic Acids
Drinking Behavior Behaviors associated with the ingesting of water and other liquids; includes rhythmic patterns of drinking (time intervals - onset and duration), frequency and satiety.
Drug Toxicity
Drug-Induced Liver Injury A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment.
Duodenal Ulcer Adding UMLS CUI for Curling Ulcer C0013295.
Dupuytren Contracture An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.
Dysplastic Nevus Syndrome OMIM mapping confirmed by DO. [SN].
E-Selectin disease cluster belonging to disease group metabolic
Ear, External trait belonging to MESH category Anatomy Category
Echocardiography
Elbow trait belonging to MESH category Anatomy Category
Electrocardiography Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.
Emphysema A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
Endometrial Neoplasms
Endometriosis The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.
Eosinophils
Epilepsies, Partial
Epilepsy A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
Erectile Dysfunction
Erythrocyte Count The number of red blood cells per unit volume in a sample of venous blood.
Erythrocyte Indices ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC).
Erythrocytes
Esophageal Neoplasms
Esophagitis
Exercise Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness.
Exercise Test Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate.
Exfoliation Syndrome OMIM mapping confirmed by DO. [SN].
Exploratory Behavior The tendency to explore or investigate a novel environment. It is considered a motivation not clearly distinguishable from curiosity.
Extraversion (Psychology) A state in which attention is largely directed outward from the self.
Eye An organ of sight; especially: a nearly spherical hollow organ that is lined with a sensitive retina, is lodged in a bony orbit in the skull, is the vertebrate organ of sight, and is normally paired.
Eye Color Color of the iris.
F8 protein, human [Supplementary Concept] trait belonging to MESH category other
Face
Factor VII
Ferritins
Fetal Hemoglobin disease cluster belonging to disease group unknown
fibrin fragment D [Supplementary Concept] trait belonging to MESH category other
Fibrinogen disease cluster belonging to disease group metabolic
Fibromyoma disease cluster belonging to disease group cancer
Floxacillin
Follicle Stimulating Hormone
Forced Expiratory Volume Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity.
Forced Vital Capacity The volume of air that is exhaled by a maximal expiration following a maximal inspiration.
Frontal Lobe Front part of the brain, involved in planning, organizing, problem solving, selective attention, personality and a variety of higher cognitive functions including behavior and emotions.
Fuchs Endothelial Dystrophy A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.
Functional Laterality Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot.
Gallbladder Diseases
Gallbladder Neoplasms
Gallstones Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin.
gamma Glutamyltransferase disease cluster belonging to disease group metabolic
gamma-Glutamylcyclotransferase disease cluster belonging to disease group metabolic
gamma-Glutamyltransferase disease cluster belonging to disease group metabolic
Gaucher Disease A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Germinoma A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.
Glaucoma An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)|Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.
Glaucoma, Open-Angle
Glioblastoma
Glioma A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine.
Glomerular Filtration Rate measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test
Glomerulonephritis, IGA
Glomerulonephritis, Membranous
Glomerulosclerosis, Focal Segmental
Glucose An aldohexose used as a source of energy and metabolic intermediate.
Glucose Tolerance Test A test to determine the ability of an individual to maintain homeostatis of blood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg).
Glucose Transporter Type 2 disease cluster belonging to disease group metabolic
Glucosylceramides disease cluster belonging to disease group metabolic
Glycoproteins
Goiter Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC).
Gout Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi.
Graves Disease An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
GRN protein, human [Supplementary Concept] trait belonging to MESH category other
Hair 1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal. 2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head.
Hair Color Color of hair or fur.
Hand Strength disease cluster belonging to disease group aging
Haptoglobins disease cluster belonging to disease group hematological
Head and Neck Neoplasms Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)
Hearing Loss reduced ability to perceive auditory stimuli
Heart Atria disease cluster belonging to disease group cardiovascular
Heart Diseases
Heart Failure
Heart Function Tests A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis
Heart Rate The number of times the HEART VENTRICLES contract per unit of time, usually per minute.
Hematocrit The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value.
Hemoglobin A, Glycosylated disease cluster belonging to disease group hematological
Hemoglobins
Hepatitis B A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
Hepatitis B Vaccines disease cluster belonging to disease group infection
Hepatitis B, Chronic
Hepatitis C A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
Hepatitis C, Chronic
hepcidin [Supplementary Concept] trait belonging to MESH category other
Hip The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them.
Hippocampus A curved elongated ridge that extends over the floor of the descending horn of each lateral ventricle of the brain and consists of gray matter covered on the ventricular surface with white matter; The hippocampus is a part of the temporal lobe, which has a well established role in learning, memory and emotion.
Hirschsprung Disease A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
HIV-1 disease cluster belonging to disease group infection
Hodgkin Disease A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
Homocysteine A sulfur-containing amino acid consisting of a glycine core with a 2-mercaptoethyl side-chain.
Hypertension Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
Hypertriglyceridemia A condition of elevated levels of TRIGLYCERIDES in the blood.
Hypertrophy, Left Ventricular
Hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
Hypothyroidism A deficiency of thyroid hormone.
Idiopathic Pulmonary Fibrosis Chronic and progressive fibrosis of the lung parenchyma of unknown cause.
Immunoglobulin A disease cluster belonging to disease group immune
Immunoglobulin E disease cluster belonging to disease group immune
Infertility, Male
Inflammation
Inflammatory Bowel Diseases
Insulin
Insulin Resistance diminished effectiveness of insulin in lowering plasma glucose levels
Insulin-Like Growth Factor Binding Protein 4 disease cluster belonging to disease group metabolic
Insulin-Like Growth Factor Binding Protein 5 disease cluster belonging to disease group metabolic
Insulin-Like Growth Factor I disease cluster belonging to disease group metabolic
Intelligence The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.
Intercellular Adhesion Molecule-1 disease cluster belonging to disease group other
Interleukin 1 Receptor Antagonist Protein
Interleukin-10
Interleukin-12 disease cluster belonging to disease group immune
Interleukin-18 disease cluster belonging to disease group immune
Interleukin-1beta disease cluster belonging to disease group immune
Interleukin-6
Intestinal Diseases
Intra-Abdominal Fat disease cluster belonging to disease group metabolic
Intracranial Aneurysm
Intuition Knowing or understanding without conscious use of reasoning. (Thesaurus of ERIC Descriptors, 1994)
Iris The circular pigmented membrane behind the cornea, perforated by the pupil; the most anterior portion of the vascular tunic of the eye, it is made up of a flat bar of circular muscular fibers surrounding the pupil, a thin layer of smooth muscle fibers by which the pupil is dilated, thus regulating the amount of light entering the eye, and posteriorly two layers of pigmented epithelial cells.
Iron
Iron-Regulatory Proteins disease cluster belonging to disease group metabolic
Isoxazoles Oxazoles in which the N and O atoms are adjacent.
Jaw Abnormalities any structural anomaly of the bony framework of the mouth where the teeth are held
Keloid A tough heaped-up scar that rises quite abruptly above the rest of the skin. It is irregularly shaped and tends to enlarge progressively. Keloids arise when there is too much collagen formed in the dermis during the repair of connective tissue.
Keratoconus A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
Kidney Calculi
Kidney Diseases
Kidney Failure, Chronic
L-Lactate Dehydrogenase disease cluster belonging to disease group metabolic
Leprosy A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid.
Leptin
Leukemia, Lymphocytic, Chronic, B-Cell
Leukemia, Lymphoid
Leukemia, Myeloid, Chronic-Phase
Leukocyte Count The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells.
Leukopenia decrease in no. of leukocytes
Life Expectancy Based on known statistical data, the number of years which any person of a given age may reasonably be expected to live.
Lipid Metabolism disease cluster belonging to disease group metabolic
Lipids
lipoprotein A-I [Supplementary Concept] trait belonging to MESH category other
Lipoprotein(a) disease cluster belonging to disease group metabolic
Lipoproteins Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.
Lipoproteins, HDL disease cluster belonging to disease group metabolic
Lipoproteins, LDL Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol.
Lipoproteins, VLDL disease cluster belonging to disease group metabolic
Liver Cirrhosis, Biliary
Longevity The length of time of an organism's life.
Lung Neoplasms
Lupus Erythematosus, Systemic A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
Luteinizing Hormone disease cluster belonging to disease group reproduction
Lymphocyte Count A quantification of lymphocytes in blood.
Lymphocytes
Lymphoma, Large B-Cell, Diffuse
Lysine
Macular Degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss.
Magnesium
Malaria A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.|Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa.|A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia.|An Aconoidasida infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
Marijuana Abuse A substance abuse that involves the recurring use of cannabis despite negative consequences.
Matrix Metalloproteinases disease cluster belonging to disease group cardiovascular
Maximal Midexpiratory Flow Rate Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%.
Melanoma A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.
Melanosis
Memory The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).
Memory, Short-Term Remembrance of information for a few seconds to hours.
Menarche The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION.
Meningioma A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
Meningococcal Infections Infections with bacteria of the species NEISSERIA MENINGITIDIS.
Menopause The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age.
Mental Competency
Mental Disorders
Mental Processes Conceptual functions or thinking in all its forms.
Metabolic Syndrome X OMIM mapping confirmed by DO. [SN].
Metabolism disease cluster belonging to disease group metabolic
Metabolome disease cluster belonging to disease group metabolic
Metformin A member of the class of guanidines that is the 1,1-dimethyl derivative of biguanide.
Migraine Disorders
Migraine without Aura A migraine that is characterized by migraine headaches that are not accompanied by an aura.
monocyte chemoattractant protein 1 (66-77) [Supplementary Concept] trait belonging to MESH category other
Monocyte Chemoattractant Protein-1 disease cluster belonging to disease group immune
Monocytes
Mood Disorders
Mortality Is the quantification of the number of deaths is a population.
Movement Disorders
Moyamoya Disease A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
Mucocutaneous Lymph Node Syndrome A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities.
Multiple Myeloma A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)|A myeloma that is located_in the plasma cells in bone marrow.|A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.
Multiple Sclerosis A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
Muscular Diseases
Myeloproliferative Disorders
Myocardial Infarction Xref MGI.
Myopia A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.
Narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
Nasopharyngeal Neoplasms
Natriuretic Peptide, Brain disease cluster belonging to disease group neurological
Neoplasms
Nephrolithiasis Formation of stones in the KIDNEY.
Nephrotic Syndrome Xref MGI.
Neuroanatomy disease cluster belonging to disease group neurological
Neurobehavioral Manifestations Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information.
Neuroblastoma A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH).
Neurofibrillary Tangles Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Neuropsychological Tests Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.
Neurotic Disorders
Neutrophils
Nevi and Melanomas disease cluster belonging to disease group cancer
Nevirapine
Non-alcoholic Fatty Liver Disease [Supplementary Concept] trait belonging to MESH category other
Nonalcoholic Fatty Liver Disease A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.
Obesity An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
Occipital Lobe This lobe is located at the back of the head and is involved in vision and reading.
Ocular Physiological Phenomena disease cluster belonging to disease group neurological
Odontogenesis The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food.
Oocytes
Optic Disk disease cluster belonging to disease group vision
Optic Nerve The optic nerve is the nerve that connects the eye to the brain and carries the impulses formed by the retina to the visual cortex of the brain.
Osteitis Deformans A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
Osteoarthritis A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.
Osteoarthritis, Knee
Osteonecrosis Death of a bone or part of a bone, either atraumatic or posttraumatic.
Osteoporosis Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.
Otosclerosis Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.
Ovarian Neoplasms
P-Selectin disease cluster belonging to disease group unknown
Paget's disease trait belonging to MESH category other
Pancreatic Neoplasms
Panic Disorder An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.
Parietal Lobe The upper central lobe of the cerebral hemisphere, separated from the temporal lobe below by the lateral sulcus, but continuous at the posterior end of that sulcus, and separated from the frontal lobe by the central sulcus. Behind, it is continuous with the occipital lobe on the lateral surface, but separated from it by the parietooccipital sulcus on the medial surface.
Parkinson Disease A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)|A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions.
Partial Thromboplastin Time The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy.
Peptides, Cyclic disease cluster belonging to disease group immune
Periodontitis Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)
Peroxidase
Perphenazine A member of the class of phenothiazines that is phenothiazine having a chloro substituent at the 2-position and a 3-[4-(2-hydroxyethyl)piperazin-1-yl]propyl group at the N-10 position.
Personality Behavior-response patterns that characterize the individual.
Phenylalanine
Phosphatidylcholines
Phospholipids
Phosphorus
Phytosterols
Platelet Aggregation The adhesion of one platelet to one or more other platelets via adhesion molecules.
Platelet Count The number of PLATELETS per unit volume in a sample of venous BLOOD.
Polycystic Ovary Syndrome A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
Polysaccharides
Potassium
Precursor Cell Lymphoblastic Leukemia-Lymphoma disease cluster belonging to disease group cancer
Prion Diseases
Prostate-Specific Antigen disease cluster belonging to disease group normalvariation
Prostatic Neoplasms
Protein C disease cluster belonging to disease group cardiovascular
Psoriasis A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.
Psychomotor Performance The coordination of a sensory or ideational (cognitive) process and a motor activity.
Pulmonary Disease, Chronic Obstructive
Pulse
Pyloric Stenosis, Hypertrophic
Receptors, Interleukin-6 disease cluster belonging to disease group immune
Receptors, Leptin disease cluster belonging to disease group metabolic
Receptors, Transferrin disease cluster belonging to disease group metabolic
Receptors, Tumor Necrosis Factor disease cluster belonging to disease group cardiovascular
Receptors, Tumor Necrosis Factor, Type II disease cluster belonging to disease group cardiovascular
Recombination, Genetic Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Religion and Psychology
Resistin
Respiration Disorders
Respiratory Function Tests Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc.
Response to radiation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation.
Restless Legs Syndrome A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
Retinal Vein Central retinal vein and its tributaries. It runs a short course within the optic nerve and then leaves and empties into the superior ophthalmic vein or cavernous sinus.
Rhabdomyolysis Necrosis or disintegration of skeletal muscle often followed by myoglobinuria.
Rhinitis, Allergic, Seasonal
Risperidone A member of the class of pyridopyrimidines that is 2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one carrying an additional 2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl group at position 2.
Sarcoma, Ewing disease cluster belonging to disease group cancer
Schizophrenia A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.|A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.
Scleroderma, Systemic
Sclerosis
Sepsis Systemic disease associated with the presence of pathogenic microorganisms or their toxins in the blood.|Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK.|The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention.|Septicemia caused by pyogenic microorganisms (e.g., STAPHYLOCOCCUS; BACILLUS), resulting in the formation of secondary foci of SUPPURATION and multiple ABSCESSES.|A disease of infectious agent resulting from the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. These pathogens are able to cause disease in animals and/or plants. Infectious pathologies are usually qualified as contagious disease (also called communicable disease) due to their potentiality of transmission from one person or species to another.|Sepsis associated with organ dysfunction distant from the site of infection.
Serotonin Plasma Membrane Transport Proteins disease cluster belonging to disease group neurological
Serum Albumin disease cluster belonging to disease group metabolic
Serum Amyloid A Protein disease cluster belonging to disease group metabolic
Sex Hormone-Binding Globulin A glycoprotein migrating as a beta-globulin. Its molecular weight, 52,000 or 95,000-115,000, indicates that it exists as a dimer. The protein binds testosterone, dihydrotestosterone, and estradiol in the plasma. Sex hormone-binding protein has the same amino acid sequence as ANDROGEN-BINDING PROTEIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications.|http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin
Sexual Dysfunctions, Psychological
Skin Pigmentation Coloration of the skin.
Sleep Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain.
Smoking
Smoking Cessation Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke.
Sneezing The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT.
Socioeconomic Factors disease cluster belonging to disease group other
Sodium
Sphingolipids
Sphingomyelins
Spondylitis, Ankylosing
Stevens-Johnson Syndrome
Stomach Neoplasms
Stroke An artery disease that is characterized by dysfunction of the blood vessels supplying the brain.
Subcutaneous Fat disease cluster belonging to disease group metabolic
Substance-Related Disorders
Suicidal Ideation A risk factor for suicide attempts and completions, it is the most common of all suicidal behavior, but only a minority of ideators engage in overt self-harm.
Suicide, Attempted The unsuccessful attempt to kill oneself.
Suntan An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors.
Supranuclear Palsy, Progressive
Survival Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease.
Tamoxifen A stilbenoid that has formula C26H29NO.
Taste
tau Proteins disease cluster belonging to disease group neurological
Telomere A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
Temporal Lobe One of the two parietal lobes of the brain located behind the frontal lobe at the top of the brain. Parietal Lobe, Right - Damage to this area can cause visuo-spatial deficits (for example, the patient may have difficulty finding their way around new, or even familiar, places). Parietal Lobe, Left - Damage to this area may disrupt a patient's ability to understand spoken and/or written language. The parietal lobes contain the primary sensory cortex which controls sensation (touch, pressure). Behind the primary sensory cortex is a large association area that controls fine sensation (judgment of texture, weight, size, shape).
Testicular Neoplasms
Testosterone An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5..
Thyroid Neoplasms
Thyrotropin
Thyroxine An iodothyronine compound having iodo substituents at the 3-, 3'-, 5- and 5'-positions.
Tissue Plasminogen Activator disease cluster belonging to disease group cardiovascular
Tobacco Use Disorder
Tooth Eruption The tooth development process in which the teeth enter the mouth and become visible.
Transferrin
Triglycerides
Tuberculosis A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.
Tumor Necrosis Factor-alpha Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-α) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well.
Tunica Media disease cluster belonging to disease group cardiovascular
Uric Acid An oxopurine that is the final oxidation product of purine metabolism.
Urinalysis disease cluster belonging to disease group renal
Urinary Bladder Neoplasms
Varicose Veins A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.
Vascular Calcification Abnormal calcification of the vasculature.
Vascular Diseases
Vascular Endothelial Growth Factor A disease cluster belonging to disease group cardiovascular
Venous Thromboembolism Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream.
Venous Thrombosis Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
Ventricular Function, Left The hemodynamic and electrophysiological action of the left HEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance.
Visual Cortex The area of the occipital lobe of the cerebral cortex concerned with vision; it consists of the first visual area or striate cortex (Brodmann's area 17) and two other areas, the second visual area or parastriate area (Brodmann's area 18) and the third visual area or peristriate area (Brodmann's area 19).
Vital Capacity The volume of air that is exhaled by a maximal expiration following a maximal inspiration.
Vitamin A A group of fat-soluble retinoids produced via metabolism of provitamin A carotenoids. Vitamin A is involved in immune function, vision, reproduction, and cellular communication.
Vitamin B 12
Vitamin B 6 disease cluster belonging to disease group metabolic
Vitamin D Vitamin D is a group of fat-soluble prohormones, which can be obtained from sun exposure, food and supplements. Vitamin D is biologically inactive and converted to the biologically active calcitriol via double hydroxylation in the body.
Vitamin E A chromanol that is chroman-6-ol which is substituted at position 2 by a methyl group and (also at position 2) either a saturated or a triply-unsaturated hydrocarbon chain consisting of three isoprenoid units.
Vitamin K A fat-soluble vitamin required for the synthesis of prothrombin and certain other blood coagulation factors.
Vitiligo A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached.
von Willebrand Factor
Waist Circumference The measurement around the body at the level of the ABDOMEN and just above the hip bone. The measurement is usually taken immediately after exhalation.
Waist-Hip Ratio The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered at risk for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)
Walking
Warfarin A hydroxycoumarin that is 4-hydroxycoumarin which is substituted at position 3 by a 1-phenyl-3-oxo-1-butyl group.