DiseaseID,DiseaseName,DiseaseDescription,SlimMapping,PathwayNames
MESH:D015746,Abdominal Pain,"Sensation of discomfort, distress, or agony in the abdominal region.",['Signs and symptoms'],Tuberculosis
MESH:D058739,Aberrant Crypt Foci,Clusters of colonic crypts that appear different from the surrounding mucosa when visualized after staining. They are of interest as putative precursors to colorectal adenomas and potential biomarkers for colorectal carcinoma.,['Cancer'],Wnt signaling pathway
MESH:D000014,"Abnormalities, Drug-Induced","Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.",['Congenital abnormality'],Wnt signaling pathway
MESH:D000015,"Abnormalities, Multiple",Congenital abnormalities that affect more than one organ or body structure.,['Congenital abnormality'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D000026,"Abortion, Habitual",Three or more consecutive spontaneous abortions.,['Pregnancy complication'],Viral carcinogenesis
MESH:D000022,"Abortion, Spontaneous",Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.,['Pregnancy complication'],Xenobiotics
MESH:D000037,Abruptio Placentae,"Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH.",['Pregnancy complication'],VEGF signaling pathway
MESH:D000138,Acidosis,"A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up.",['Metabolic disease'],Transport of inorganic cations/anions and amino acids/oligopeptides
MESH:D000140,"Acidosis, Lactic",Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE.,['Metabolic disease'],Transcriptional Regulation by TP53
MESH:D000141,"Acidosis, Renal Tubular","A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.","['Genetic disease (inborn)', 'Metabolic disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Transport of inorganic cations/anions and amino acids/oligopeptides
MESH:D000152,Acne Vulgaris,"A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors.",['Skin disease'],Tuberculosis
MESH:D020083,Acquired Hyperostosis Syndrome,"Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.",['Musculoskeletal disease'],Wnt signaling pathway
MESH:D000163,Acquired Immunodeficiency Syndrome,"An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.","['Immune system disease', 'Viral disease']",VEGFR2 mediated cell proliferation
MESH:D000169,Acrodermatitis,"Inflammation involving the skin of the extremities, especially the hands and feet. Several forms are known, some idiopathic and some hereditary. The infantile form is called Gianotti-Crosti syndrome.","['Congenital abnormality', 'Skin disease']",Zinc transporters
MESH:D000172,Acromegaly,"A condition caused by prolonged exposure to excessive HUMAN GROWTH HORMONE in adults. It is characterized by bony enlargement of the FACE; lower jaw (PROGNATHISM); hands; FEET; HEAD; and THORAX. The most common etiology is a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. (From Joynt, Clinical Neurology, 1992, Ch36, pp79-80)","['Endocrine system disease', 'Musculoskeletal disease', 'Nervous system disease']",Vibrio cholerae infection
MESH:D020016,Activated Protein C Resistance,A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.,"['Blood disease', 'Genetic disease (inborn)']",Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
MESH:D054058,Acute Coronary Syndrome,An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.,['Cardiovascular disease'],Vpu mediated degradation of CD4
MESH:D058186,Acute Kidney Injury,Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions.,"['Urogenital disease (female)', 'Urogenital disease (male)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D055371,Acute Lung Injury,"A condition of lung damage that is characterized by bilateral pulmonary infiltrates (PULMONARY EDEMA) rich in NEUTROPHILS, and in the absence of clinical HEART FAILURE. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).",['Respiratory tract disease'],Vitamin digestion and absorption
MESH:D000210,Acute-Phase Reaction,"An early local inflammatory reaction to insult or injury that consists of fever, an increase in inflammatory humoral factors, and an increased synthesis by hepatocytes of a number of proteins or glycoproteins usually found in the plasma.",['Pathology (process)'],Cell junction organization
MESH:D000224,Addison Disease,"An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES.","['Endocrine system disease', 'Immune system disease']",Tuberculosis
MESH:D000230,Adenocarcinoma,A malignant epithelial tumor with a glandular organization.,['Cancer'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D018262,"Adenocarcinoma, Clear Cell","An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)",['Cancer'],Wnt signaling pathway
MESH:D018263,"Adenocarcinoma, Follicular","An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)",['Cancer'],Viral carcinogenesis
MESH:D000077192,Adenocarcinoma of Lung,"A carcinoma originating in the lung and the most common lung cancer type in never-smokers. Malignant cells exhibit distinct features such as glandular epithelial, or tubular morphology. Mutations in KRAS, EGFR, BRAF, and ERBB2 genes are associated with this cancer.",['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D000236,Adenoma,A benign epithelial tumor with a glandular organization.,['Cancer'],Wnt signaling pathway
MESH:D018248,"Adenoma, Liver Cell",A benign epithelial tumor of the LIVER.,"['Cancer', 'Digestive system disease']",Wnt signaling pathway
MESH:D011125,Adenomatous Polyposis Coli,"A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood.","['Cancer', 'Digestive system disease', 'Genetic disease (inborn)']",Wnt signaling pathway
MESH:D018256,Adenomatous Polyps,"Benign neoplasms derived from glandular epithelium. (From Stedman, 25th ed)",['Cancer'],Wnt signaling pathway
MESH:D000275,Adjustment Disorders,"Maladaptive reactions to identifiable psychosocial stressors occurring within a short time after onset of the stressor. They are manifested by either impairment in social or occupational functioning or by symptoms (depression, anxiety, etc.) that are in excess of a normal and expected reaction to the stressor.",['Mental disorder'],Viral carcinogenesis
MESH:D000303,Adrenal Cortex Diseases,Pathological processes of the ADRENAL CORTEX.,['Endocrine system disease'],Signal Transduction
MESH:D000307,Adrenal Gland Diseases,Pathological processes of the ADRENAL GLANDS.,['Endocrine system disease'],Transport to the Golgi and subsequent modification
MESH:D000310,Adrenal Gland Neoplasms,Tumors or cancer of the ADRENAL GLANDS.,"['Cancer', 'Endocrine system disease']",Wnt signaling pathway
MESH:D000312,"Adrenal Hyperplasia, Congenital","A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.","['Congenital abnormality', 'Endocrine system disease', 'Genetic disease (inborn)', 'Metabolic disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Vesicle-mediated transport
MESH:D000309,Adrenal Insufficiency,"Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS.",['Endocrine system disease'],Transcriptional regulation of pluripotent stem cells
MESH:D018268,Adrenocortical Carcinoma,"A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM.","['Cancer', 'Endocrine system disease']",Wnt signaling pathway
MESH:D000361,Agammaglobulinemia,An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.,"['Blood disease', 'Immune system disease', 'Lymphatic disease']",Transcriptional misregulation in cancer
MESH:D010520,Aggressive Periodontitis,"Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.",['Mouth disease'],Vesicle-mediated transport
MESH:D019588,"Aging, Premature","Changes in the organism associated with senescence, occurring at an accelerated rate.",['Signs and symptoms'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D000380,Agranulocytosis,A decrease in the number of GRANULOCYTES; (BASOPHILS; EOSINOPHILS; and NEUTROPHILS).,['Blood disease'],VEGFR2 mediated cell proliferation
MESH:D000382,Agricultural Workers' Diseases,"Diseases in persons engaged in cultivating and tilling soil, growing plants, harvesting crops, raising livestock, or otherwise engaged in husbandry and farming. The diseases are not restricted to farmers in the sense of those who perform conventional farm chores: the heading applies also to those engaged in the individual activities named above, as in those only gathering harvest or in those only dusting crops.",['Occupational disease'],Synthesis of 5-eicosatetraenoic acids
MESH:D015526,AIDS Dementia Complex,"A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)","['Immune system disease', 'Mental disorder', 'Nervous system disease', 'Viral disease']",Vesicle-mediated transport
MESH:D017088,AIDS-Related Opportunistic Infections,"Opportunistic infections found in patients who test positive for human immunodeficiency virus (HIV). The most common include PNEUMOCYSTIS PNEUMONIA, Kaposi's sarcoma, cryptosporidiosis, herpes simplex, toxoplasmosis, cryptococcosis, and infections with Mycobacterium avium complex, Microsporidium, and Cytomegalovirus.","['Immune system disease', 'Viral disease']",Vpu mediated degradation of CD4
MESH:D000402,Airway Obstruction,Any hindrance to the passage of air into and out of the lungs.,['Respiratory tract disease'],Transcriptional misregulation in cancer
MESH:D000419,Albuminuria,"The presence of albumin in the urine, an indicator of KIDNEY DISEASES.","['Signs and symptoms', 'Urogenital disease (female)', 'Urogenital disease (male)']",Visual phototransduction
MESH:D000435,Alcoholic Intoxication,An acute brain syndrome which results from the excessive ingestion of ETHANOL or ALCOHOLIC BEVERAGES.,"['Mental disorder', 'Substance-related disorder']",Transcriptional misregulation in cancer
MESH:D020751,Alcohol-Induced Disorders,Disorders stemming from the misuse and abuse of alcohol.,['Substance-related disorder'],"Valine, leucine and isoleucine degradation"
MESH:D000437,Alcoholism,"A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)","['Mental disorder', 'Substance-related disorder']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D000430,Alcohol Withdrawal Delirium,"An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)","['Mental disorder', 'Nervous system disease', 'Substance-related disorder']","Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds"
MESH:D020270,Alcohol Withdrawal Seizures,"A condition where seizures occur in association with ethanol abuse (ALCOHOLISM) without other identifiable causes. Seizures usually occur within the first 6-48 hours after the cessation of alcohol intake, but may occur during periods of alcohol intoxication. Single generalized tonic-clonic motor seizures are the most common subtype, however, STATUS EPILEPTICUS may occur. (Adams et al., Principles of Neurology, 6th ed, p1174)","['Nervous system disease', 'Signs and symptoms', 'Substance-related disorder']","Transport of vitamins, nucleosides, and related molecules"
MESH:D038261,Alexander Disease,"Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.","['Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease']",Signal Transduction
MESH:D000471,Alkalosis,A pathological condition that removes acid or adds base to the body fluids.,['Metabolic disease'],Signal Transduction
MESH:D000505,Alopecia,Absence of hair from areas where it is normally present.,"['Pathology (anatomical condition)', 'Skin disease']",Wnt signaling pathway
MESH:D000506,Alopecia Areata,Loss of scalp and body hair involving microscopically inflammatory patchy areas.,['Skin disease'],Vesicle-mediated transport
MESH:D019896,alpha 1-Antitrypsin Deficiency,Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.,"['Digestive system disease', 'Genetic disease (inborn)', 'Pathology (process)', 'Respiratory tract disease']",Vesicle-mediated transport
MESH:D056769,Alstrom Syndrome,"Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.","['Congenital abnormality', 'Eye disease', 'Genetic disease (inborn)', 'Nervous system disease']",Regulation of PLK1 Activity at G2/M Transition
MESH:D016301,Alveolar Bone Loss,Resorption or wasting of the tooth-supporting bone (ALVEOLAR PROCESS) in the MAXILLA or MANDIBLE.,"['Mouth disease', 'Musculoskeletal disease']",TNFs bind their physiological receptors
MESH:D000542,"Alveolitis, Extrinsic Allergic","A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis.","['Immune system disease', 'Respiratory tract disease']",Peroxisome
MESH:D000544,Alzheimer Disease,"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)","['Mental disorder', 'Nervous system disease']",Zinc transporters
MESH:D000568,Amenorrhea,Absence of menstruation.,['Pathology (process)'],Steroid hormone biosynthesis
MESH:D000647,Amnesia,"Pathologic partial or complete loss of the ability to recall past experiences (AMNESIA, RETROGRADE) or to form new memories (AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)","['Mental disorder', 'Nervous system disease', 'Signs and symptoms']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D000648,"Amnesia, Retrograde","Loss of the ability to recall information that had been previously encoded in memory prior to a specified or approximate point in time. This process may be organic or psychogenic in origin. Organic forms may be associated with CRANIOCEREBRAL TRAUMA; CEREBROVASCULAR ACCIDENTS; SEIZURES; DEMENTIA; and a wide variety of other conditions that impair cerebral function. (From Adams et al., Principles of Neurology, 6th ed, pp426-9)","['Mental disorder', 'Nervous system disease', 'Signs and symptoms']",Renin-angiotensin system
MESH:D019969,Amphetamine-Related Disorders,Disorders related or resulting from use of amphetamines.,"['Mental disorder', 'Substance-related disorder']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D028227,"Amyloid Neuropathies, Familial",Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.,"['Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease']",Visual phototransduction
MESH:D000686,Amyloidosis,"A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.",['Metabolic disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D000690,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. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)","['Metabolic disease', 'Nervous system disease']",Wnt signaling pathway
MESH:D000707,Anaphylaxis,"An acute hypersensitivity reaction due to exposure to a previously encountered ANTIGEN. The reaction may include rapidly progressing URTICARIA, respiratory distress, vascular collapse, systemic SHOCK, and death.",['Immune system disease'],The NLRP3 inflammasome
MESH:D000740,Anemia,A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.,['Blood disease'],Vpr-mediated nuclear import of PICs
MESH:D000741,"Anemia, Aplastic",A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements.,['Blood disease'],Viral myocarditis
MESH:D029503,"Anemia, Diamond-Blackfan","A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)","['Blood disease', 'Genetic disease (inborn)']",Viral mRNA Translation
MESH:D000743,"Anemia, Hemolytic",A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).,['Blood disease'],Vesicle-mediated transport
MESH:D000744,"Anemia, Hemolytic, Autoimmune",Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.,"['Blood disease', 'Immune system disease']","Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds"
MESH:D029502,"Anemia, Hypoplastic, Congenital",An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA.,"['Blood disease', 'Genetic disease (inborn)']","Uridine monophosphate biosynthesis, glutamine (+ PRPP) => UMP"
MESH:D018798,"Anemia, Iron-Deficiency","Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased.","['Blood disease', 'Metabolic disease']",Vesicle-mediated transport
MESH:D000748,"Anemia, Macrocytic","Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).",['Blood disease'],Wnt signaling pathway
MESH:D000749,"Anemia, Megaloblastic","A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS.",['Blood disease'],Vitamin digestion and absorption
MESH:D000751,"Anemia, Neonatal",The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.,"['Blood disease', 'Infant-newborn disease']",Vesicle-mediated transport
MESH:D000753,"Anemia, Refractory","A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy.",['Blood disease'],Type II diabetes mellitus
MESH:D000755,"Anemia, Sickle Cell","A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.","['Blood disease', 'Genetic disease (inborn)']",Vesicle-mediated transport
MESH:D000756,"Anemia, Sideroblastic",Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow.,['Blood disease'],Tuberculosis
MESH:D000757,Anencephaly,"A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)","['Congenital abnormality', 'Nervous system disease']",Immune System
MESH:D000782,Aneuploidy,"The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).",['Pathology (process)'],Vesicle-mediated transport
MESH:D000783,Aneurysm,"Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics.",['Cardiovascular disease'],Signaling by Interleukins
MESH:D000787,Angina Pectoris,"The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION.","['Cardiovascular disease', 'Signs and symptoms']",Vesicle-mediated transport
MESH:D060050,"Angina, Stable",Persistent and reproducible chest discomfort usually precipitated by a physical exertion that dissipates upon cessation of such an activity. The symptoms are manifestations of MYOCARDIAL ISCHEMIA.,"['Cardiovascular disease', 'Signs and symptoms']",Type II diabetes mellitus
MESH:D000789,"Angina, Unstable","Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION.","['Cardiovascular disease', 'Signs and symptoms']",Unfolded Protein Response (UPR)
MESH:D000799,Angioedema,"Swelling involving the deep DERMIS, subcutaneous, or submucosal tissues, representing localized EDEMA. Angioedema often occurs in the face, lips, tongue, and larynx.","['Cardiovascular disease', 'Immune system disease', 'Skin disease']",Viral myocarditis
MESH:D054179,"Angioedemas, Hereditary",Inherited disorders that are characterized by subcutaneous and submucosal EDEMA in the upper RESPIRATORY TRACT and GASTROINTESTINAL TRACT.,"['Cardiovascular disease', 'Genetic disease (inborn)', 'Immune system disease', 'Skin disease']",Signal Transduction
MESH:D015858,Anisometropia,A condition of an inequality of refractive power of the two eyes.,['Eye disease'],Ub-specific processing proteases
MESH:D000848,Anodontia,"Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. (Dorland, 27th ed)","['Congenital abnormality', 'Mouth disease']",Molecules associated with elastic fibres
MESH:D000853,Anophthalmos,Congenital absence of the eye or eyes.,"['Congenital abnormality', 'Eye disease']",Visual phototransduction
MESH:D000855,Anorexia,The lack or loss of APPETITE accompanied by an aversion to food and the inability to eat. It is the defining characteristic of the disorder ANOREXIA NERVOSA.,['Signs and symptoms'],VEGFR2 mediated cell proliferation
MESH:D000856,Anorexia Nervosa,"An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)",['Mental disorder'],Signal Transduction
MESH:D000858,Anovulation,"Suspension or cessation of OVULATION in animals or humans with follicle-containing ovaries (OVARIAN FOLLICLE). Depending on the etiology, OVULATION may be induced with appropriate therapy.","['Endocrine system disease', 'Urogenital disease (female)']",Regulation of gene expression in early pancreatic precursor cells
MESH:D016736,Antiphospholipid Syndrome,"The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).",['Immune system disease'],Transcriptional regulation of white adipocyte differentiation
MESH:D000987,Antisocial Personality Disorder,"A personality disorder whose essential feature is a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. The individual must be at least age 18 and must have a history of some symptoms of CONDUCT DISORDER before age 15. (From DSM-IV, 1994).",['Mental disorder'],Tyrosine metabolism
MESH:D054882,Antley-Bixler Syndrome Phenotype,"An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).","['Congenital abnormality', 'Genetic disease (inborn)', 'Metabolic disease', 'Musculoskeletal disease']",VEGFR2 mediated cell proliferation
MESH:D001002,Anuria,"Absence of urine formation. It is usually associated with complete bilateral ureteral (URETER) obstruction, complete lower urinary tract obstruction, or unilateral ureteral obstruction when a solitary kidney is present.","['Urogenital disease (female)', 'Urogenital disease (male)']",Vesicle-mediated transport
MESH:D001006,"Anus, Imperforate","A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.","['Congenital abnormality', 'Digestive system disease']",Signal Transduction
MESH:D001005,Anus Neoplasms,Tumors or cancer of the ANAL CANAL.,"['Cancer', 'Digestive system disease']",Tuberculosis
MESH:D001008,Anxiety Disorders,Persistent and disabling ANXIETY.,['Mental disorder'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D001010,"Anxiety, Separation",Anxiety experienced by an individual upon separation from a person or object of particular significance to the individual.,['Mental disorder'],Signal Transduction
MESH:D001014,Aortic Aneurysm,An abnormal balloon- or sac-like dilatation in the wall of AORTA.,['Cardiovascular disease'],Wnt signaling pathway
MESH:D017544,"Aortic Aneurysm, Abdominal","An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm.",['Cardiovascular disease'],Vesicle-mediated transport
MESH:D017545,"Aortic Aneurysm, Thoracic",An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.,['Cardiovascular disease'],Vascular smooth muscle contraction
MESH:D001018,Aortic Diseases,Pathological processes involving any part of the AORTA.,['Cardiovascular disease'],Tryptophan metabolism
MESH:D000784,Aortic Dissection,"A tear in the inner layer of the AORTA leading to interstitial HEMORRHAGE, and splitting (dissecting) of the aortic TUNICA MEDIA layer. It typically begins with a tear in the TUNICA INTIMA layer.",['Cardiovascular disease'],Wnt signaling pathway
MESH:D001019,Aortic Rupture,"The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA.","['Cardiovascular disease', 'Wounds and injuries']",Ubiquinone and other terpenoid-quinone biosynthesis
MESH:D001022,Aortic Valve Insufficiency,"Pathological condition characterized by the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to regurgitation. It is caused by diseases of the AORTIC VALVE or its surrounding tissue (aortic root).",['Cardiovascular disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D001037,Aphasia,"A cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form. This condition is caused by diseases which affect the language areas of the dominant hemisphere. Clinical features are used to classify the various subtypes of this condition. General categories include receptive, expressive, and mixed forms of aphasia.","['Nervous system disease', 'Signs and symptoms']",Transcriptional misregulation in cancer
MESH:D001049,Apnea,A transient absence of spontaneous respiration.,"['Respiratory tract disease', 'Signs and symptoms']","Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds"
MESH:D001139,Arnold-Chiari Malformation,"A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)","['Congenital abnormality', 'Nervous system disease']",Oncogene Induced Senescence
MESH:D001145,"Arrhythmias, Cardiac","Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.","['Cardiovascular disease', 'Pathology (process)']",Voltage gated Potassium channels
MESH:D020261,Arsenic Poisoning,"Disorders associated with acute or chronic exposure to compounds containing ARSENIC (ARSENICALS) which may be fatal. Acute oral ingestion is associated with gastrointestinal symptoms and an encephalopathy which may manifest as SEIZURES, mental status changes, and COMA. Chronic exposure is associated with mucosal irritation, desquamating rash, myalgias, peripheral neuropathy, and white transverse (Mees) lines in the fingernails. (Adams et al., Principles of Neurology, 6th ed, p1212)",['Nervous system disease'],Wnt signaling pathway
MESH:D001157,Arterial Occlusive Diseases,Pathological processes which result in the partial or complete obstruction of ARTERIES. They are characterized by greatly reduced or absence of blood flow through these vessels. They are also known as arterial insufficiency.,['Cardiovascular disease'],Transcriptional misregulation in cancer
MESH:D001161,Arteriosclerosis,"Thickening and loss of elasticity of the walls of ARTERIES of all sizes. There are many forms classified by the types of lesions and arteries involved, such as ATHEROSCLEROSIS with fatty lesions in the ARTERIAL INTIMA of medium and large muscular arteries.",['Cardiovascular disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D001165,Arteriovenous Malformations,"Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas.","['Cardiovascular disease', 'Congenital abnormality']",VEGFR2 mediated cell proliferation
MESH:D001167,Arteritis,INFLAMMATION of any ARTERIES.,['Cardiovascular disease'],Xenobiotics
MESH:D018771,Arthralgia,Pain in the joint.,"['Musculoskeletal disease', 'Signs and symptoms']",Terpenoid backbone biosynthesis
MESH:D001168,Arthritis,Acute or chronic inflammation of JOINTS.,['Musculoskeletal disease'],Viral carcinogenesis
MESH:D001169,"Arthritis, Experimental","ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN.",['Musculoskeletal disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D015210,"Arthritis, Gouty","Arthritis, especially of the great toe, as a result of gout. Acute gouty arthritis often is precipitated by trauma, infection, surgery, etc. The initial attacks are usually monoarticular but later attacks are often polyarticular. Acute and chronic gouty arthritis are associated with accumulation of MONOSODIUM URATE in and around affected joints.","['Genetic disease (inborn)', 'Metabolic disease', 'Musculoskeletal disease']",Signal Transduction
MESH:D001170,"Arthritis, Infectious",Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES.,['Musculoskeletal disease'],Type II diabetes mellitus
MESH:D001171,"Arthritis, Juvenile","Arthritis in children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent.","['Connective tissue disease', 'Immune system disease', 'Musculoskeletal disease']",Wnt signaling pathway
MESH:D015535,"Arthritis, Psoriatic","A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor.","['Musculoskeletal disease', 'Skin disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D001172,"Arthritis, Rheumatoid","A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.","['Connective tissue disease', 'Immune system disease', 'Musculoskeletal disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D001176,Arthrogryposis,Persistent flexure or contracture of a joint.,"['Congenital abnormality', 'Musculoskeletal disease']",Transmission across Chemical Synapses
MESH:D001195,Asbestosis,"A form of pneumoconiosis caused by inhalation of asbestos fibers which elicit potent inflammatory responses in the parenchyma of the lung. The disease is characterized by interstitial fibrosis of the lung, varying from scattered sites to extensive scarring of the alveolar interstitium.","['Occupational disease', 'Respiratory tract disease']",Vesicle-mediated transport
MESH:D001201,Ascites,Accumulation or retention of free fluid within the peritoneal cavity.,['Pathology (process)'],Taste transduction
MESH:D020817,Asperger Syndrome,"A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)",['Mental disorder'],Transmission across Chemical Synapses
MESH:D001228,Aspergillosis,Infections with fungi of the genus ASPERGILLUS.,['Bacterial infection or mycosis'],Tuberculosis
MESH:D001237,Asphyxia,"A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life.","['Pathology (process)', 'Wounds and injuries']",Organelle biogenesis and maintenance
MESH:D001238,Asphyxia Neonatorum,"Respiratory failure in the newborn. (Dorland, 27th ed)",['Infant-newborn disease'],Wnt signaling pathway
MESH:D001247,Asthenia,"Clinical sign or symptom manifested as debility, or lack or loss of strength and energy.",['Signs and symptoms'],VEGFR2 mediated cell proliferation
MESH:D053627,Asthenozoospermia,A condition in which the percentage of motile sperm is abnormally low.,['Urogenital disease (male)'],Transcriptional misregulation in cancer
MESH:D001249,Asthma,"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).","['Immune system disease', 'Respiratory tract disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D055963,"Asthma, Aspirin-Induced","Asthmatic adverse reaction (e.g., BRONCHOCONSTRICTION) to conventional NSAIDS including aspirin use.","['Immune system disease', 'Respiratory tract disease']",Viral myocarditis
MESH:D059366,"Asthma, Occupational","Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE.","['Immune system disease', 'Occupational disease', 'Respiratory tract disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D001254,Astrocytoma,"Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)",['Cancer'],Viral carcinogenesis
MESH:D001259,Ataxia,"Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.","['Nervous system disease', 'Signs and symptoms']",Vitamin C (ascorbate) metabolism
MESH:D001260,Ataxia Telangiectasia,"An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).","['Cardiovascular disease', 'Genetic disease (inborn)', 'Immune system disease', 'Metabolic disease', 'Nervous system disease']",Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
MESH:D050197,Atherosclerosis,A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.,['Cardiovascular disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D001281,Atrial Fibrillation,"Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation.","['Cardiovascular disease', 'Pathology (process)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D054537,Atrioventricular Block,Impaired impulse conduction from HEART ATRIA to HEART VENTRICLES. AV block can mean delayed or completely blocked impulse conduction.,"['Cardiovascular disease', 'Pathology (process)']",XBP1(S) activates chaperone genes
MESH:D001284,Atrophy,"Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.",['Pathology (anatomical condition)'],Xenobiotics
MESH:D019958,Attention Deficit and Disruptive Behavior Disorders,"Includes two similar disorders: oppositional defiant disorder and CONDUCT DISORDERS. Symptoms occurring in children with these disorders include: defiance of authority figures, angry outbursts, and other antisocial behaviors.",['Mental disorder'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D001289,Attention Deficit Disorder with Hyperactivity,"A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late   adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V)",['Mental disorder'],Vesicle-mediated transport
MESH:D065766,Atypical Hemolytic Uremic Syndrome,"An hereditary hemolytic uremic syndrome associated with variations in the gene that encodes COMPLEMENT FACTOR H, or the related proteins CFHR1 and CFHR3. Disease often progresses to CHRONIC KIDNEY FAILURE without the prodromal symptoms of ENTEROCOLITIS and DIARRHEA that characterize typical hemolytic uremic syndrome.","['Blood disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Viral carcinogenesis
MESH:D001308,Auditory Perceptual Disorders,"Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech.","['Ear-nose-throat disease', 'Mental disorder', 'Nervous system disease', 'Signs and symptoms']",Transmission across Chemical Synapses
MESH:D000067877,Autism Spectrum Disorder,"Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (from DSM-V)",['Mental disorder'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D001321,Autistic Disorder,A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V),['Mental disorder'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D001327,Autoimmune Diseases,Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.,['Immune system disease'],Visual phototransduction
MESH:D056735,Autoimmune Lymphoproliferative Syndrome,"Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY.","['Genetic disease (inborn)', 'Immune system disease', 'Lymphatic disease']",Viral myocarditis
MESH:D001342,Autonomic Nervous System Diseases,Diseases of the parasympathetic or sympathetic divisions of the AUTONOMIC NERVOUS SYSTEM; which has components located in the CENTRAL NERVOUS SYSTEM and PERIPHERAL NERVOUS SYSTEM. Autonomic dysfunction may be associated with HYPOTHALAMIC DISEASES; BRAIN STEM disorders; SPINAL CORD DISEASES; and PERIPHERAL NERVOUS SYSTEM DISEASES. Manifestations include impairments of vegetative functions including the maintenance of BLOOD PRESSURE; HEART RATE; pupil function; SWEATING; REPRODUCTIVE AND URINARY PHYSIOLOGY; and DIGESTION.,['Nervous system disease'],Signal Transduction
MESH:D053713,Azoospermia,A condition of having no sperm present in the ejaculate (SEMEN).,['Urogenital disease (male)'],Vibrio cholerae infection
MESH:D053099,Azotemia,"A biochemical abnormality referring to an elevation of BLOOD UREA NITROGEN and CREATININE. Azotemia can be produced by KIDNEY DISEASES or other extrarenal disorders. When azotemia becomes associated with a constellation of clinical signs, it is termed UREMIA.","['Pathology (process)', 'Urogenital disease (female)', 'Urogenital disease (male)']","Synthesis, secretion, and deacylation of Ghrelin"
MESH:D001416,Back Pain,Acute or chronic pain located in the posterior regions of the THORAX; LUMBOSACRAL REGION; or the adjacent regions.,['Signs and symptoms'],Transcriptional misregulation in cancer
MESH:D016470,Bacteremia,"The presence of viable bacteria circulating in the blood. Fever, chills, tachycardia, and tachypnea are common acute manifestations of bacteremia. The majority of cases are seen in already hospitalized patients, most of whom have underlying diseases or procedures which render their bloodstreams susceptible to invasion.","['Bacterial infection or mycosis', 'Pathology (process)']",Tuberculosis
MESH:D001424,Bacterial Infections,"Infections by bacteria, general or unspecified.",['Bacterial infection or mycosis'],Protein folding
MESH:D001471,Barrett Esophagus,"A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus.","['Cancer', 'Digestive system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D056889,Barth Syndrome,"Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.","['Cardiovascular disease', 'Congenital abnormality', 'Genetic disease (inborn)', 'Metabolic disease']",Phospholipid metabolism
MESH:D001477,Bartter Syndrome,"A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.","['Endocrine system disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Transport of inorganic cations/anions and amino acids/oligopeptides
MESH:D001478,Basal Cell Nevus Syndrome,"Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.","['Cancer', 'Congenital abnormality', 'Genetic disease (inborn)', 'Mouth disease', 'Musculoskeletal disease']",Signal Transduction
MESH:D001480,Basal Ganglia Diseases,Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.,['Nervous system disease'],Xenobiotics
MESH:D001528,Behcet Syndrome,Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.,"['Cardiovascular disease', 'Eye disease', 'Genetic disease (inborn)', 'Mouth disease', 'Skin disease']",Xenobiotics
MESH:D001607,Berylliosis,"A form of pneumoconiosis caused by inhaled rare metal BERYLLIUM or its soluble salts which are used in a wide variety of industry including alloys, ceramics, radiographic equipment, and vacuum tubes. Berylliosis is characterized by an acute inflammatory reaction in the upper airway leading to BRONCHIOLITIS; PULMONARY EDEMA; and pneumonia.","['Occupational disease', 'Respiratory tract disease']",Viral myocarditis
MESH:D017086,beta-Thalassemia,"A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.","['Blood disease', 'Genetic disease (inborn)']",Vesicle-mediated transport
MESH:D001649,Bile Duct Diseases,Diseases in any part of the ductal system of the BILIARY TRACT from the smallest BILE CANALICULI to the largest COMMON BILE DUCT.,['Digestive system disease'],Porphyrin and chlorophyll metabolism
MESH:D001650,Bile Duct Neoplasms,Tumors or cancer of the BILE DUCTS.,"['Cancer', 'Digestive system disease']",Vesicle-mediated transport
MESH:D001661,Biliary Tract Neoplasms,Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER.,"['Cancer', 'Digestive system disease']",Wnt signaling pathway
MESH:D056912,Binge-Eating Disorder,"A disorder associated with three or more of the following: eating until feeling uncomfortably full; eating large amounts of food when not physically hungry; eating much more rapidly than normal; eating alone due to embarrassment; feeling of disgust, DEPRESSION, or guilt after overeating. Criteria includes occurrence on average, at least 2 days a week for 6 months. The binge eating is not associated with the regular use of inappropriate compensatory behavior (i.e. purging, excessive exercise, etc.) and does not co-occur exclusively with BULIMIA NERVOSA or ANOREXIA NERVOSA. (From DSM-IV, 1994)",['Mental disorder'],Signal Transduction
MESH:D001714,Bipolar Disorder,A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.,['Mental disorder'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D001724,Birth Weight,The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.,['Signs and symptoms'],Xenobiotics
MESH:D001752,Blast Crisis,"An advanced phase of chronic myelogenous leukemia, characterized by a rapid increase in the proportion of immature white blood cells (blasts) in the blood and bone marrow to greater than 30%.","['Blood disease', 'Cancer', 'Pathology (process)']",Signal Transduction
MESH:D001763,Blepharoptosis,Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.,['Eye disease'],Signal Transduction
MESH:D001764,Blepharospasm,Excessive winking; tonic or clonic spasm of the orbicularis oculi muscle.,['Eye disease'],Signal Transduction
MESH:D001766,Blindness,The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.,"['Eye disease', 'Nervous system disease', 'Signs and symptoms']",Visual phototransduction
MESH:D001768,Blister,Visible accumulations of fluid within or beneath the epidermis.,"['Pathology (anatomical condition)', 'Skin disease']",TNF signaling
MESH:D001778,Blood Coagulation Disorders,Hemorrhagic and thrombotic disorders that occur as a consequence of abnormalities in blood coagulation due to a variety of factors such as COAGULATION PROTEIN DISORDERS; BLOOD PLATELET DISORDERS; BLOOD PROTEIN DISORDERS or nutritional conditions.,['Blood disease'],Vesicle-mediated transport
MESH:D001791,Blood Platelet Disorders,Disorders caused by abnormalities in platelet count or function.,['Blood disease'],Vesicle-mediated transport
MESH:D001835,Body Weight,The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.,['Signs and symptoms'],Vesicle-mediated transport
MESH:D001847,Bone Diseases,Diseases of BONES.,['Musculoskeletal disease'],Viral carcinogenesis
MESH:D001848,"Bone Diseases, Developmental",Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES.,['Musculoskeletal disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D001849,"Bone Diseases, Endocrine",Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands.,"['Endocrine system disease', 'Musculoskeletal disease']",VEGFR2 mediated cell proliferation
MESH:D001851,"Bone Diseases, Metabolic",Diseases that affect the METABOLIC PROCESSES of BONE TISSUE.,"['Metabolic disease', 'Musculoskeletal disease']",Vitamins
MESH:D001855,Bone Marrow Diseases,Diseases involving the BONE MARROW.,['Blood disease'],Telomere Maintenance
MESH:D019046,Bone Marrow Neoplasms,"Neoplasms located in the bone marrow. They are differentiated from neoplasms composed of bone marrow cells, such as MULTIPLE MYELOMA. Most bone marrow neoplasms are metastatic.","['Blood disease', 'Cancer']",Signaling by Interleukins
MESH:D001859,Bone Neoplasms,Tumors or cancer located in bone tissue or specific BONES.,"['Cancer', 'Musculoskeletal disease']",VEGF signaling pathway
MESH:D001862,Bone Resorption,Bone loss due to osteoclastic activity.,['Musculoskeletal disease'],Xenobiotics
MESH:D001913,Bowen's Disease,"A persistent progressive non-elevated red scaly or crusted plaque which is due to an intradermal carcinoma and is potentially malignant. Atypical squamous cells proliferate through the whole thickness of the epidermis. The lesions may occur anywhere on the skin surface or on mucosal surfaces. The cause most frequently found is trivalent arsenic compounds. Freezing, cauterization or diathermy coagulation is often effective. (From Rook et al., Textbook of Dermatology, 4th ed, pp2428-9)",['Cancer'],Wnt signaling pathway
MESH:D020968,Brachial Plexus Neuritis,"A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)",['Nervous system disease'],Bacterial invasion of epithelial cells
MESH:D001919,Bradycardia,"Cardiac arrhythmias that are characterized by excessively slow HEART RATE, usually below 50 beats per minute in human adults. They can be classified broadly into SINOATRIAL NODE dysfunction and ATRIOVENTRICULAR BLOCK.","['Cardiovascular disease', 'Pathology (process)']",Xenobiotics
MESH:D001927,Brain Diseases,"Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.",['Nervous system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D001928,"Brain Diseases, Metabolic","Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.","['Metabolic disease', 'Nervous system disease']",Transmission across Chemical Synapses
MESH:D001929,Brain Edema,"Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)",['Nervous system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D020520,Brain Infarction,"Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.","['Cardiovascular disease', 'Nervous system disease', 'Pathology (process)']",VEGFR2 mediated cell proliferation
MESH:D001930,Brain Injuries,"Acute and chronic (see also BRAIN INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and BRAIN STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.","['Nervous system disease', 'Wounds and injuries']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D000070642,"Brain Injuries, Traumatic",A form of acquired brain injury which occurs when a sudden trauma causes damage to the brain.,"['Nervous system disease', 'Wounds and injuries']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D002545,Brain Ischemia,"Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION.","['Cardiovascular disease', 'Nervous system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D001932,Brain Neoplasms,"Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.","['Cancer', 'Nervous system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D020295,Brain Stem Neoplasms,"Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA.","['Cancer', 'Nervous system disease']",Viral carcinogenesis
MESH:D001941,Breast Diseases,Pathological processes of the BREAST.,['Skin disease'],Transcriptional Regulation by TP53
MESH:D001943,Breast Neoplasms,Tumors or cancer of the human BREAST.,"['Cancer', 'Skin disease']",Zinc transporters
MESH:D018567,"Breast Neoplasms, Male","Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females.","['Cancer', 'Skin disease']",Ub-specific processing proteases
MESH:D001982,Bronchial Diseases,Diseases involving the BRONCHI.,['Respiratory tract disease'],Vesicle-mediated transport
MESH:D016535,Bronchial Hyperreactivity,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.,['Respiratory tract disease'],Viral myocarditis
MESH:D001987,Bronchiectasis,Persistent abnormal dilatation of the bronchi.,['Respiratory tract disease'],Viral myocarditis
MESH:D001989,Bronchiolitis Obliterans,Inflammation of the BRONCHIOLES leading to an obstructive lung disease. Bronchioles are characterized by fibrous granulation tissue with bronchial exudates in the lumens. Clinical features include a nonproductive cough and DYSPNEA.,['Respiratory tract disease'],Type I diabetes mellitus
MESH:D029481,"Bronchitis, Chronic",A subcategory of CHRONIC OBSTRUCTIVE PULMONARY DISEASE. The disease is characterized by hypersecretion of mucus accompanied by a chronic (more than 3 months in 2 consecutive years) productive cough. Infectious agents are a major cause of chronic bronchitis.,"['Pathology (process)', 'Respiratory tract disease']",VEGF signaling pathway
MESH:D001997,Bronchopulmonary Dysplasia,"A chronic lung disease developed after OXYGEN INHALATION THERAPY or mechanical ventilation (VENTILATION, MECHANICAL) usually occurring in certain premature infants (INFANT, PREMATURE) or newborn infants with respiratory distress syndrome (RESPIRATORY DISTRESS SYNDROME, NEWBORN). Histologically, it is characterized by the unusual abnormalities of the bronchioles, such as METAPLASIA, decrease in alveolar number, and formation of CYSTS.","['Infant-newborn disease', 'Respiratory tract disease']",Type I diabetes mellitus
MESH:D002006,Brucellosis,"Infection caused by bacteria of the genus BRUCELLA mainly involving the MONONUCLEAR PHAGOCYTE SYSTEM. This condition is characterized by fever, weakness, malaise, and weight loss.",['Bacterial infection or mycosis'],Metabolism of lipids and lipoproteins
MESH:D053840,Brugada Syndrome,An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.,"['Cardiovascular disease', 'Genetic disease (inborn)']",Signal Transduction
MESH:D006502,Budd-Chiari Syndrome,A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.,"['Cardiovascular disease', 'Digestive system disease']",Vesicle-mediated transport
MESH:D010244,"Bulbar Palsy, Progressive","A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)",['Nervous system disease'],Vitamin digestion and absorption
MESH:D002051,Burkitt Lymphoma,"A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative.","['Cancer', 'Immune system disease', 'Lymphatic disease', 'Viral disease']",Wnt signaling pathway
MESH:D002056,Burns,"Injuries to tissues caused by contact with heat, steam, chemicals (BURNS, CHEMICAL), electricity (BURNS, ELECTRIC), or the like.",['Wounds and injuries'],VEGF signaling pathway
MESH:D002057,"Burns, Chemical",Burns caused by contact with or exposure to CAUSTICS or strong ACIDS.,['Wounds and injuries'],VEGFR2 mediated cell proliferation
MESH:D002100,Cachexia,"General ill health, malnutrition, and weight loss, usually associated with chronic disease.",['Signs and symptoms'],VEGF signaling pathway
MESH:D002114,Calcinosis,Pathologic deposition of calcium salts in tissues.,['Metabolic disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D002177,Candidiasis,"Infection with a fungus of the genus CANDIDA. It is usually a superficial infection of the moist areas of the body and is generally caused by CANDIDA ALBICANS. (Dorland, 27th ed)",['Bacterial infection or mycosis'],Ubiquitin mediated proteolysis
MESH:D002178,"Candidiasis, Chronic Mucocutaneous","A clinical syndrome characterized by development, usually in infancy or childhood, of a chronic, often widespread candidiasis of skin, nails, and mucous membranes. It may be secondary to one of the immunodeficiency syndromes, inherited as an autosomal recessive trait, or associated with defects in cell-mediated immunity, endocrine disorders, dental stomatitis, or malignancy.","['Bacterial infection or mycosis', 'Pathology (process)', 'Skin disease']",Tuberculosis
MESH:D002180,"Candidiasis, Oral","Infection of the mucous membranes of the mouth by a fungus of the genus CANDIDA. (Dorland, 27th ed)","['Bacterial infection or mycosis', 'Mouth disease']",Response of Mtb to phagocytosis
MESH:D002181,"Candidiasis, Vulvovaginal",Infection of the VULVA and VAGINA with a fungus of the genus CANDIDA.,"['Bacterial infection or mycosis', 'Urogenital disease (female)']",Response of Mtb to phagocytosis
MESH:D063646,Carcinogenesis,"The origin, production or development of cancer through genotypic and phenotypic changes which upset the normal balance between cell proliferation and cell death. Carcinogenesis generally requires a constellation of steps, which may occur quickly or over a period of many years.","['Cancer', 'Pathology (process)']",Viral myocarditis
MESH:D002276,Carcinoid Tumor,"A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182)",['Cancer'],Proteoglycans in cancer
MESH:D002277,Carcinoma,A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm and not a synonym for 'cancer.',['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D002280,"Carcinoma, Basal Cell","A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)",['Cancer'],Wnt signaling pathway
MESH:D044584,"Carcinoma, Ductal","Malignant neoplasms involving the ductal systems of any of a number of organs, such as the MAMMARY GLANDS, the PANCREAS, the PROSTATE, or the LACRIMAL GLAND.",['Cancer'],Wnt signaling pathway
MESH:D018270,"Carcinoma, Ductal, Breast",An invasive (infiltrating) CARCINOMA of the mammary ductal system (MAMMARY GLANDS) in the human BREAST.,"['Cancer', 'Skin disease']",Wnt signaling pathway
MESH:D018236,"Carcinoma, Embryonal","A highly malignant, primitive form of carcinoma, probably of germinal cell or teratomatous derivation, usually arising in a gonad and rarely in other sites. It is rare in the female ovary, but in the male it accounts for 20% of all testicular tumors. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, p1595)",['Cancer'],TNFs bind their physiological receptors
MESH:D018269,"Carcinoma, Endometrioid",An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues.,"['Cancer', 'Endocrine system disease', 'Urogenital disease (female)']",Post-translational protein modification
MESH:D006528,"Carcinoma, Hepatocellular","A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.","['Cancer', 'Digestive system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D018287,"Carcinoma, Large Cell","A tumor of undifferentiated (anaplastic) cells of large size. It is usually bronchogenic. (From Dorland, 27th ed)",['Cancer'],Xenobiotics
MESH:D018827,"Carcinoma, Lewis Lung",A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy.,['Cancer'],Uptake and function of diphtheria toxin
MESH:D018275,"Carcinoma, Lobular","A type of BREAST CANCER where the abnormal malignant cells form in the lobules, or milk-producing glands, of the breast.","['Cancer', 'Skin disease']",Viral carcinogenesis
MESH:D018276,"Carcinoma, Medullary","A carcinoma composed mainly of epithelial elements with little or no stroma. Medullary carcinomas of the breast constitute 5%-7% of all mammary carcinomas; medullary carcinomas of the thyroid comprise 3%-10% of all thyroid malignancies. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1141; Segen, Dictionary of Modern Medicine, 1992)",['Cancer'],VEGFR2 mediated cell proliferation
MESH:D015266,"Carcinoma, Merkel Cell","A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)","['Cancer', 'Viral disease']",Wnt signaling pathway
MESH:D002289,"Carcinoma, Non-Small-Cell Lung","A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy.","['Cancer', 'Respiratory tract disease']",Xenobiotics
MESH:D000077216,"Carcinoma, Ovarian Epithelial","A malignant neoplasm that originates in cells on the surface EPITHELIUM of the ovary and is the most common form of ovarian cancer. There are five histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Mutations in BRCA1, OPCML, PRKN, PIK3CA, AKT1, CTNNB1, RRAS2, and CDH1 genes are associated with this cancer.","['Cancer', 'Endocrine system disease', 'Urogenital disease (female)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D021441,"Carcinoma, Pancreatic Ductal",Carcinoma that arises from the PANCREATIC DUCTS. It accounts for the majority of cancers derived from the PANCREAS.,"['Cancer', 'Digestive system disease', 'Endocrine system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D002292,"Carcinoma, Renal Cell","A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.","['Cancer', 'Urogenital disease (female)', 'Urogenital disease (male)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D018288,"Carcinoma, Small Cell","An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)",['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D002294,"Carcinoma, Squamous Cell","A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)",['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D002295,"Carcinoma, Transitional Cell","A malignant neoplasm derived from TRANSITIONAL EPITHELIAL CELLS, occurring chiefly in the URINARY BLADDER; URETERS; or RENAL PELVIS.",['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D002296,Carcinosarcoma,"A malignant neoplasm that contains elements of carcinoma and sarcoma so extensively intermixed as to indicate neoplasia of epithelial and mesenchymal tissue. (Stedman, 25th ed)",['Cancer'],UCH proteinases
MESH:D016534,"Cardiac Output, High","A state of elevated cardiac output due to conditions of either increased hemodynamic demand or reduced cardiac oxygen output. These conditions may include ANEMIA; ARTERIOVENOUS FISTULA; THYROTOXICOSIS; PREGNANCY; EXERCISE; FEVER; and HYPOXIA. In time, compensatory changes of the heart can lead to pathological form of high cardiac output and eventual HEART FAILURE.","['Cardiovascular disease', 'Signs and symptoms']",cGMP-PKG signaling pathway
MESH:D002303,"Cardiac Output, Low","A state of subnormal or depressed cardiac output at rest or during stress. It is a characteristic of CARDIOVASCULAR DISEASES, including congenital, valvular, rheumatic, hypertensive, coronary, and cardiomyopathic. The serious form of low cardiac output is characterized by marked reduction in STROKE VOLUME, and systemic vasoconstriction resulting in cold, pale, and sometimes cyanotic extremities.","['Cardiovascular disease', 'Signs and symptoms']",Protein processing in endoplasmic reticulum
MESH:D002305,Cardiac Tamponade,Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse.,['Cardiovascular disease'],Transcriptional misregulation in cancer
MESH:D006332,Cardiomegaly,"Enlargement of the HEART, usually indicated by a cardiothoracic ratio above 0.50. Heart enlargement may involve the right, the left, or both HEART VENTRICLES or HEART ATRIA. Cardiomegaly is a nonspecific symptom seen in patients with chronic systolic heart failure (HEART FAILURE) or several forms of CARDIOMYOPATHIES.","['Cardiovascular disease', 'Pathology (anatomical condition)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D009202,Cardiomyopathies,"A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).",['Cardiovascular disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D002310,"Cardiomyopathy, Alcoholic",Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE).,"['Cardiovascular disease', 'Substance-related disorder']",Signal Transduction
MESH:D002311,"Cardiomyopathy, Dilated","A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.","['Cardiovascular disease', 'Genetic disease (inborn)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D002312,"Cardiomyopathy, Hypertrophic","A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).",['Cardiovascular disease'],Wnt signaling pathway
MESH:D002313,"Cardiomyopathy, Restrictive","A form of CARDIAC MUSCLE disease in which the ventricular walls are excessively rigid, impeding ventricular filling. It is marked by reduced diastolic volume of either or both ventricles but normal or nearly normal systolic function. It may be idiopathic or associated with other diseases (ENDOMYOCARDIAL FIBROSIS or AMYLOIDOSIS) causing interstitial fibrosis.",['Cardiovascular disease'],Striated Muscle Contraction
MESH:D066126,Cardiotoxicity,Damage to the HEART or its function secondary to exposure to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION.,"['Cardiovascular disease', 'Pathology (process)', 'Wounds and injuries']",Wnt signaling pathway
MESH:D018376,Cardiovascular Abnormalities,"Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.","['Cardiovascular disease', 'Congenital abnormality']",Visual phototransduction
MESH:D002318,Cardiovascular Diseases,Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.,['Cardiovascular disease'],Xenobiotics
MESH:D018188,Cardiovirus Infections,"Infections caused by viruses of the genus CARDIOVIRUS, family PICORNAVIRIDAE.",['Viral disease'],Type II diabetes mellitus
MESH:D002340,Carotid Artery Diseases,"Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology.","['Cardiovascular disease', 'Nervous system disease']",Wnt signaling pathway
MESH:D002341,Carotid Artery Thrombosis,"Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX.","['Cardiovascular disease', 'Nervous system disease']",VEGFR2 mediated cell proliferation
MESH:D016893,Carotid Stenosis,"Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3)","['Cardiovascular disease', 'Nervous system disease']",Visual phototransduction
MESH:D002349,Carpal Tunnel Syndrome,"Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)","['Nervous system disease', 'Wounds and injuries']",Visual phototransduction
MESH:D002357,Cartilage Diseases,Pathological processes involving the chondral tissue (CARTILAGE).,"['Connective tissue disease', 'Musculoskeletal disease']",TNF signaling pathway
MESH:D005871,Castleman Disease,"Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A.","['Immune system disease', 'Lymphatic disease']",Tuberculosis
MESH:D002375,Catalepsy,"A condition characterized by inactivity, decreased responsiveness to stimuli, and a tendency to maintain an immobile posture. The limbs tend to remain in whatever position they are placed (waxy flexibility). Catalepsy may be associated with PSYCHOTIC DISORDERS (e.g., SCHIZOPHRENIA, CATATONIC), nervous system drug toxicity, and other conditions.","['Nervous system disease', 'Signs and symptoms']",VLDL interactions
MESH:D002386,Cataract,"Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)",['Eye disease'],Vesicle-mediated transport
MESH:D002389,Catatonia,"A neuropsychiatric disorder characterized by one or more of the following essential features: immobility, mutism, negativism (active or passive refusal to follow commands), mannerisms, stereotypies, posturing, grimacing, excitement, echolalia, echopraxia, muscular rigidity, and stupor; sometimes punctuated by sudden violent outbursts, panic, or hallucinations. This condition may be associated with psychiatric illnesses (e.g., SCHIZOPHRENIA; MOOD DISORDERS) or organic disorders (NEUROLEPTIC MALIGNANT SYNDROME; ENCEPHALITIS, etc.). (From DSM-IV, 4th ed, 1994; APA, Thesaurus of Psychological Index Terms, 1994)","['Nervous system disease', 'Signs and symptoms']",Signal Transduction
MESH:D002446,Celiac Disease,"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.","['Digestive system disease', 'Metabolic disease']",VLDL interactions
MESH:D002471,"Cell Transformation, Neoplastic","Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.","['Cancer', 'Pathology (process)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D002481,Cellulitis,"An acute, diffuse, and suppurative inflammation of loose connective tissue, particularly the deep subcutaneous tissues, and sometimes muscle, which is most commonly seen as a result of infection of a wound, ulcer, or other skin lesions.","['Connective tissue disease', 'Pathology (process)']",Vesicle-mediated transport
MESH:D002493,Central Nervous System Diseases,"Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord.",['Nervous system disease'],The citric acid (TCA) cycle and respiratory electron transport
MESH:D016543,Central Nervous System Neoplasms,"Benign and malignant neoplastic processes that arise from or secondarily involve the brain, spinal cord, or meninges.","['Cancer', 'Nervous system disease']",Wnt signaling pathway
MESH:D002524,Cerebellar Ataxia,"Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)","['Nervous system disease', 'Signs and symptoms']",Viral mRNA Translation
MESH:D002526,Cerebellar Diseases,"Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.",['Nervous system disease'],Transmission across Chemical Synapses
MESH:D002543,Cerebral Hemorrhage,Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA.,"['Cardiovascular disease', 'Nervous system disease', 'Pathology (process)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D002544,Cerebral Infarction,"The formation of an area of NECROSIS in the CEREBRUM caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction).","['Cardiovascular disease', 'Nervous system disease', 'Pathology (process)']",Vesicle-mediated transport
MESH:D002547,Cerebral Palsy,"A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)",['Nervous system disease'],Signal Transduction
MESH:D002561,Cerebrovascular Disorders,"A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others.","['Cardiovascular disease', 'Nervous system disease']",Transcriptional misregulation in cancer
MESH:D002607,Charcot-Marie-Tooth Disease,"A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)","['Congenital abnormality', 'Genetic disease (inborn)', 'Nervous system disease']",TRP channels
MESH:D056486,Chemical and Drug Induced Liver Injury,"A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, herbal and dietary supplements and chemicals from the environment.",['Digestive system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D002637,Chest Pain,"Pressure, burning, or numbness in the chest.",['Signs and symptoms'],Signal Transduction
MESH:D002659,"Child Development Disorders, Pervasive","Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements.",['Mental disorder'],Signal Transduction
MESH:D023341,Chills,The sudden sensation of being cold. It may be accompanied by SHIVERING.,['Signs and symptoms'],Type I diabetes mellitus
MESH:D002690,Chlamydia Infections,Infections with bacteria of the genus CHLAMYDIA.,['Bacterial infection or mycosis'],Type II diabetes mellitus
MESH:D018281,Cholangiocarcinoma,A malignant tumor arising from the epithelium of the BILE DUCTS.,['Cancer'],Wnt signaling pathway
MESH:D002761,Cholangitis,"Inflammation of the biliary ductal system (BILE DUCTS); intrahepatic, extrahepatic, or both.",['Digestive system disease'],Vesicle-mediated transport
MESH:D015209,"Cholangitis, Sclerosing","Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS.",['Digestive system disease'],Ub-specific processing proteases
MESH:D042883,Choledocholithiasis,Presence or formation of GALLSTONES in the COMMON BILE DUCT.,['Digestive system disease'],Metabolism of amino acids and derivatives
MESH:D002769,Cholelithiasis,"Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS).",['Digestive system disease'],Metabolism of amino acids and derivatives
MESH:D002779,Cholestasis,Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS).,['Digestive system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D001651,"Cholestasis, Extrahepatic",Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes.,['Digestive system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D002780,"Cholestasis, Intrahepatic","Impairment of bile flow due to injury to the HEPATOCYTES; BILE CANALICULI; or the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC).",['Digestive system disease'],Vibrio cholerae infection
MESH:D002805,Chondrocalcinosis,"Presence of CALCIUM PYROPHOSPHATE in the connective tissues such as the cartilaginous structures of  joints. When accompanied by GOUT-like symptoms, it is referred to as pseudogout.",['Musculoskeletal disease'],Signal Transduction
MESH:D002806,Chondrodysplasia Punctata,"A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.",['Musculoskeletal disease'],Steroid biosynthesis
MESH:D002813,Chondrosarcoma,"A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)",['Cancer'],Protein digestion and absorption
MESH:D002819,Chorea,"Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES.","['Nervous system disease', 'Signs and symptoms']",Transmission across Chemical Synapses
MESH:D020256,Choroidal Neovascularization,A pathological process consisting of the formation of new blood vessels in the CHOROID.,"['Eye disease', 'Pathology (process)']",VEGF signaling pathway
MESH:D043171,Chromosomal Instability,"An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.",['Pathology (process)'],Viral mRNA Translation
MESH:D002869,Chromosome Aberrations,Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.,['Pathology (process)'],Viral carcinogenesis
MESH:D019457,Chromosome Breakage,A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.,['Pathology (process)'],XBP1(S) activates chaperone genes
MESH:D002908,Chronic Disease,"Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care (Dictionary of Health Services Management, 2d ed). For epidemiological studies chronic disease often includes HEART DISEASES; STROKE; CANCER; and diabetes (DIABETES MELLITUS, TYPE 2).",['Pathology (process)'],Transmembrane transport of small molecules
MESH:D059350,Chronic Pain,"Aching sensation that persists for more than a few months. It may or may not be associated with trauma or disease, and may persist after the initial injury has healed. Its localization, character, and timing are more vague than with acute pain.",['Signs and symptoms'],Taste transduction
MESH:D021081,Chronobiology Disorders,Disruptions of the rhythmic cycle of bodily functions or activities.,['Nervous system disease'],Xenobiotics
MESH:D054221,Classical Lissencephalies and Subcortical Band Heterotopias,"Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)","['Congenital abnormality', 'Genetic disease (inborn)', 'Nervous system disease']",Neurofascin interactions
MESH:D002971,Cleft Lip,Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.,"['Congenital abnormality', 'Mouth disease']",Wnt signaling pathway
MESH:D002972,Cleft Palate,"Congenital fissure of the soft and/or hard palate, due to faulty fusion.","['Congenital abnormality', 'Mouth disease', 'Musculoskeletal disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D003025,Clubfoot,"A deformed foot in which the foot is plantarflexed, inverted, and adducted.","['Congenital abnormality', 'Musculoskeletal disease']",One carbon pool by folate
MESH:D019970,Cocaine-Related Disorders,Disorders related or resulting from use of cocaine.,"['Mental disorder', 'Substance-related disorder']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D015834,Cochlear Diseases,"Pathological processes of the snail-like structure (COCHLEA) of the inner ear (LABYRINTH) which can involve its nervous tissue, blood vessels, or fluid (ENDOLYMPH).",['Ear-nose-throat disease'],Peroxisome
MESH:D003057,Cockayne Syndrome,A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.,"['Congenital abnormality', 'Genetic disease (inborn)', 'Metabolic disease', 'Musculoskeletal disease', 'Nervous system disease']",Ubiquitin mediated proteolysis
MESH:D003072,Cognition Disorders,"Disorders characterized by disturbances in mental processes related to learning, thinking, reasoning, and judgment.",['Mental disorder'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D060825,Cognitive Dysfunction,Diminished or impaired mental and/or intellectual function.,['Mental disorder'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D003092,Colitis,"Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER.",['Digestive system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D003093,"Colitis, Ulcerative","Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN.",['Digestive system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D003103,Coloboma,Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.,"['Congenital abnormality', 'Eye disease']",Viral myocarditis
MESH:D003110,Colonic Neoplasms,Tumors or cancer of the COLON.,"['Cancer', 'Digestive system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D003111,Colonic Polyps,"Discrete tissue masses that protrude into the lumen of the COLON. These POLYPS are connected to the wall of the colon either by a stalk, pedunculus, or by a broad base.",['Pathology (anatomical condition)'],TRP channels
MESH:D015179,Colorectal Neoplasms,Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.,"['Cancer', 'Digestive system disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D003123,"Colorectal Neoplasms, Hereditary Nonpolyposis","A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.","['Cancer', 'Digestive system disease', 'Genetic disease (inborn)', 'Metabolic disease']",Wnt signaling pathway
MESH:D003117,Color Vision Defects,"Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.","['Eye disease', 'Nervous system disease', 'Signs and symptoms']",Unfolded Protein Response (UPR)
MESH:D003128,Coma,A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem RETICULAR FORMATION.,"['Nervous system disease', 'Signs and symptoms']",Xenobiotics
MESH:D003161,Compartment Syndromes,"Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE. FASCIOTOMY is often used to decompress increased pressure and eliminate pain associated with compartment syndromes.","['Cardiovascular disease', 'Musculoskeletal disease']",Vesicle-mediated transport
MESH:D000013,Congenital Abnormalities,Malformations of organs or body parts during development in utero.,['Congenital abnormality'],Vesicle-mediated transport
MESH:D044903,Congenital Hyperinsulinism,"A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).","['Digestive system disease', 'Infant-newborn disease', 'Metabolic disease']",Type II diabetes mellitus
MESH:D003409,Congenital Hypothyroidism,"A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.","['Endocrine system disease', 'Genetic disease (inborn)', 'Musculoskeletal disease']",Tyrosine metabolism
MESH:D065817,Congenital Microtia,Malformation of external portion of EAR AURICLE.,"['Congenital abnormality', 'Ear-nose-throat disease']",Small interfering RNA (siRNA) biogenesis
MESH:D003229,Conjunctival Diseases,Diseases involving the CONJUNCTIVA.,['Eye disease'],Programmed Cell Death
MESH:D003240,Connective Tissue Diseases,"A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides.",['Connective tissue disease'],Extracellular matrix organization
MESH:D003248,Constipation,"Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections.",['Signs and symptoms'],"Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)"
MESH:D003286,Contracture,"Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.",['Musculoskeletal disease'],Uptake and function of anthrax toxins
MESH:D046349,"Coproporphyria, Hereditary","An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.","['Digestive system disease', 'Genetic disease (inborn)', 'Metabolic disease', 'Skin disease']",Porphyrin and chlorophyll metabolism
MESH:D003316,Corneal Diseases,Diseases of the cornea.,['Eye disease'],Transcriptional misregulation in cancer
MESH:D065306,Corneal Injuries,Damage or trauma inflicted to the CORNEA by external means.,"['Eye disease', 'Nervous system disease', 'Wounds and injuries']",Tyrosine metabolism
MESH:D016510,Corneal Neovascularization,"New blood vessels originating from the corneal blood vessels and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION.","['Eye disease', 'Pathology (process)']",VEGF signaling pathway
MESH:D003318,Corneal Opacity,Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque.,['Eye disease'],Transport of inorganic cations/anions and amino acids/oligopeptides
MESH:D003320,Corneal Ulcer,"Loss of epithelial tissue from the surface of the cornea due to progressive erosion and necrosis of the tissue; usually caused by bacterial, fungal, or viral infection.",['Eye disease'],Wnt signaling pathway
MESH:D003323,Coronary Aneurysm,"Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE.",['Cardiovascular disease'],Vesicle-mediated transport
MESH:D003324,Coronary Artery Disease,"Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.",['Cardiovascular disease'],VLDLR internalisation and degradation
MESH:D003327,Coronary Disease,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.,['Cardiovascular disease'],Wnt signaling pathway
MESH:D023903,Coronary Restenosis,Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.,['Cardiovascular disease'],Type II diabetes mellitus
MESH:D023921,Coronary Stenosis,Narrowing or constriction of a coronary artery.,['Cardiovascular disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D003328,Coronary Thrombosis,Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION.,['Cardiovascular disease'],VEGFR2 mediated cell proliferation
MESH:D003329,Coronary Vasospasm,Spasm of the large- or medium-sized coronary arteries.,['Cardiovascular disease'],VEGF signaling pathway
MESH:D003330,Coronary Vessel Anomalies,"Malformations of CORONARY VESSELS, either arteries or veins. Included are anomalous origins of coronary arteries; ARTERIOVENOUS FISTULA; CORONARY ANEURYSM; MYOCARDIAL BRIDGING; and others.","['Cardiovascular disease', 'Congenital abnormality']",Sulfur amino acid metabolism
MESH:D018352,Coronavirus Infections,"Virus diseases caused by the CORONAVIRUS genus. Some specifics include transmissible enteritis of turkeys (ENTERITIS, TRANSMISSIBLE, OF TURKEYS); FELINE INFECTIOUS PERITONITIS; and transmissible gastroenteritis of swine (GASTROENTERITIS, TRANSMISSIBLE, OF SWINE).",['Viral disease'],Viral carcinogenesis
MESH:D003371,Cough,"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. It is a protective response that serves to clear the trachea, bronchi, and/or lungs of irritants and secretions, or to prevent aspiration of foreign materials into the lungs.","['Respiratory tract disease', 'Signs and symptoms']",TRP channels
MESH:D003384,Coxsackievirus Infections,"A heterogeneous group of infections produced by coxsackieviruses, including HERPANGINA, aseptic meningitis (MENINGITIS, ASEPTIC), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (PLEURODYNIA, EPIDEMIC) and a serious MYOCARDITIS.",['Viral disease'],Type II diabetes mellitus
MESH:D006259,Craniocerebral Trauma,"Traumatic injuries involving the cranium and intracranial structures (i.e., BRAIN; CRANIAL NERVES; MENINGES; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage.","['Nervous system disease', 'Wounds and injuries']",Intrinsic Pathway of Fibrin Clot Formation
MESH:D019465,Craniofacial Abnormalities,"Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.","['Congenital abnormality', 'Musculoskeletal disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D003394,Craniofacial Dysostosis,Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.,"['Congenital abnormality', 'Musculoskeletal disease']",VEGFR2 mediated cell proliferation
MESH:D003398,Craniosynostoses,Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.,"['Congenital abnormality', 'Musculoskeletal disease']",VEGFR2 mediated cell proliferation
MESH:D007562,Creutzfeldt-Jakob Syndrome,"A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))","['Mental disorder', 'Nervous system disease']",Viral myocarditis
MESH:D016638,Critical Illness,A disease or state in which death is possible or imminent.,['Pathology (process)'],Steroid hormone biosynthesis
MESH:D003424,Crohn Disease,"A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.",['Digestive system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D003456,Cryptorchidism,A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis.,"['Congenital abnormality', 'Endocrine system disease', 'Urogenital disease (male)']",Viral myocarditis
MESH:D003480,Cushing Syndrome,"A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.",['Endocrine system disease'],Wnt signaling pathway
MESH:D003490,Cyanosis,A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule.,['Signs and symptoms'],Vitamin C (ascorbate) metabolism
MESH:D003550,Cystic Fibrosis,"An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.","['Digestive system disease', 'Genetic disease (inborn)', 'Infant-newborn disease', 'Respiratory tract disease']",Vibrio cholerae infection
MESH:D003554,Cystinosis,"A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.","['Genetic disease (inborn)', 'Metabolic disease']",Transport of inorganic cations/anions and amino acids/oligopeptides
MESH:D003556,Cystitis,"Inflammation of the URINARY BLADDER, either from bacterial or non-bacterial causes. Cystitis is usually associated with painful urination (dysuria), increased frequency, urgency, and suprapubic pain.","['Urogenital disease (female)', 'Urogenital disease (male)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D018856,"Cystitis, Interstitial",A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency.,"['Urogenital disease (female)', 'Urogenital disease (male)']",Toll-like receptor signaling pathway
MESH:D003560,Cysts,"Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues.","['Cancer', 'Pathology (anatomical condition)']",VxPx cargo-targeting to cilium
MESH:D030401,Cytochrome-c Oxidase Deficiency,"A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)","['Genetic disease (inborn)', 'Metabolic disease']",Transcriptional Regulation by TP53
MESH:D003586,Cytomegalovirus Infections,"Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults.",['Viral disease'],Tuberculosis
MESH:D007644,Darier Disease,"An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.","['Genetic disease (inborn)', 'Skin disease']",Transmembrane transport of small molecules
MESH:D003638,Deafness,A general term for the complete loss of the ability to hear from both ears.,"['Ear-nose-throat disease', 'Nervous system disease', 'Signs and symptoms']",Wnt signaling pathway
MESH:D003643,Death,"Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions.",['Pathology (process)'],Vitamin digestion and absorption
MESH:D003645,"Death, Sudden","The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions.",['Pathology (process)'],TRP channels
MESH:D016757,"Death, Sudden, Cardiac","Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)","['Cardiovascular disease', 'Pathology (process)']",XBP1(S) activates chaperone genes
MESH:D003677,Deficiency Diseases,"A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)",['Nutrition disorder'],"Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds"
MESH:D003680,Deglutition Disorders,Difficulty in SWALLOWING which may result from neuromuscular disorder or mechanical obstruction. Dysphagia is classified into two distinct types: oropharyngeal dysphagia due to malfunction of the PHARYNX and UPPER ESOPHAGEAL SPHINCTER; and esophageal dysphagia due to malfunction of the ESOPHAGUS.,"['Digestive system disease', 'Ear-nose-throat disease']",tRNA processing in the nucleus
MESH:D003681,Dehydration,The condition that results from excessive loss of water from a living organism.,"['Metabolic disease', 'Pathology (process)']",Vesicle-mediated transport
MESH:D055191,Delayed Emergence from Anesthesia,"Abnormally slow pace of regaining CONSCIOUSNESS after general anesthesia (ANESTHESIA, GENERAL) usually given during surgical procedures. This condition is characterized by persistent somnolence.",['Pathology (process)'],Immune System
MESH:D003704,Dementia,"An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.","['Mental disorder', 'Nervous system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D003711,Demyelinating Diseases,Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system.,['Nervous system disease'],Wnt signaling pathway
MESH:D003715,Dengue,"An acute febrile disease transmitted by the bite of AEDES mosquitoes infected with DENGUE VIRUS. It is self-limiting and characterized by fever, myalgia, headache, and rash. SEVERE DENGUE is a more virulent form of dengue.",['Viral disease'],Tuberculosis
MESH:D057973,Dent Disease,"X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.","['Genetic disease (inborn)', 'Urogenital disease (female)', 'Urogenital disease (male)']",Transmembrane transport of small molecules
MESH:D003866,Depressive Disorder,An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent.,['Mental disorder'],XBP1(S) activates chaperone genes
MESH:D003865,"Depressive Disorder, Major","Disorder in which five (or more) of the following symptoms have been present during the same 2-week period and represent a change from previous functioning; at least one of the symptoms is either (1) depressed mood or (2) loss of interest or pleasure. Symptoms include: depressed mood most of the day, nearly every daily; markedly diminished interest or pleasure in activities most of the day, nearly every day; significant weight loss when not dieting or weight gain; Insomnia or hypersomnia nearly every day; psychomotor agitation or retardation nearly every day; fatigue or loss of energy nearly every day; feelings of worthlessness or excessive or inappropriate guilt; diminished ability to think or concentrate, or indecisiveness, nearly every day; or  recurrent thoughts of death, recurrent suicidal ideation without a specific plan, or a suicide attempt. (DSM-5)",['Mental disorder'],VLDL interactions
MESH:D003872,Dermatitis,Any inflammation of the skin.,['Skin disease'],Viral myocarditis
MESH:D017449,"Dermatitis, Allergic Contact",A contact dermatitis due to allergic sensitization to various substances. These substances subsequently produce inflammatory reactions in the skin of those who have acquired hypersensitivity to them as a result of prior exposure.,"['Immune system disease', 'Skin disease']",Xenobiotics
MESH:D003876,"Dermatitis, Atopic","A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.","['Genetic disease (inborn)', 'Immune system disease', 'Skin disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D003877,"Dermatitis, Contact",A type of acute or chronic skin reaction in which sensitivity is manifested by reactivity to materials or substances coming in contact with the skin. It may involve allergic or non-allergic mechanisms.,['Skin disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D017453,"Dermatitis, Irritant",A non-allergic contact dermatitis caused by prolonged exposure to irritants and not explained by delayed hypersensitivity mechanisms.,['Skin disease'],Viral myocarditis
MESH:D018223,Dermatofibrosarcoma,"A sarcoma of the deep layers of the skin. The tumors are locally aggressive tends to recur but rarely metastatic. It can be classified into variants depending on the cell type tumors are derived from or by its characteristics: Pigmented variant from MELANIN-containing DERMAL DENDRITIC CELLS; Myxoid variant, myxoid STROMAL CELLS; Giant cell variant characterized by GIANT CELLS in the tumors; and Fibrosarcomatous variant chracterized by tumor areas histologically indistinguishable from FIBROSARCOMA.",['Cancer'],VEGFR2 mediated cell proliferation
MESH:D003882,Dermatomyositis,"A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)","['Connective tissue disease', 'Musculoskeletal disease', 'Nervous system disease', 'Skin disease']",Viral myocarditis
MESH:D002658,Developmental Disabilities,"Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)",['Mental disorder'],XBP1(S) activates chaperone genes
MESH:D003914,Dextrocardia,"A congenital defect in which the heart is located on the right side of the THORAX instead of on the left side (levocardia, the normal position). When dextrocardia is accompanied with inverted HEART ATRIA, a right-sided STOMACH, and a left-sided LIVER, the combination is called dextrocardia with SITUS INVERSUS. Dextrocardia may adversely affect other thoracic organs.","['Cardiovascular disease', 'Congenital abnormality']",Transcriptional regulation of pluripotent stem cells
MESH:D048909,Diabetes Complications,"Conditions or pathological processes associated with the disease of diabetes mellitus. Due to the impaired control of BLOOD GLUCOSE level in diabetic patients, pathological processes develop in numerous tissues and organs including the EYE, the KIDNEY, the BLOOD VESSELS, and the NERVE TISSUE.",['Endocrine system disease'],Viral carcinogenesis
MESH:D016640,"Diabetes, Gestational",Diabetes mellitus induced by PREGNANCY but resolved at the end of pregnancy. It does not include previously diagnosed diabetics who become pregnant (PREGNANCY IN DIABETICS). Gestational diabetes usually develops in late pregnancy when insulin antagonistic hormones peaks leading to INSULIN RESISTANCE; GLUCOSE INTOLERANCE; and HYPERGLYCEMIA.,"['Endocrine system disease', 'Metabolic disease', 'Pregnancy complication']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D003919,Diabetes Insipidus,"A disease that is characterized by frequent urination, excretion of large amounts of dilute URINE, and excessive THIRST. Etiologies of diabetes insipidus include deficiency of antidiuretic hormone (also known as ADH or VASOPRESSIN) secreted by the NEUROHYPOPHYSIS, impaired KIDNEY response to ADH, and impaired hypothalamic regulation of thirst.","['Endocrine system disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Vesicle-mediated transport
MESH:D018500,"Diabetes Insipidus, Nephrogenic",A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.,"['Urogenital disease (female)', 'Urogenital disease (male)']",Wnt signaling pathway
MESH:D020790,"Diabetes Insipidus, Neurogenic",A genetic or acquired polyuric disorder caused by a deficiency of VASOPRESSINS secreted by the NEUROHYPOPHYSIS. Clinical signs include the excretion of large volumes of dilute URINE; HYPERNATREMIA; THIRST; and polydipsia. Etiologies include HEAD TRAUMA; surgeries and diseases involving the HYPOTHALAMUS and the PITUITARY GLAND. This disorder may also be caused by mutations of genes such as ARVP encoding vasopressin and its corresponding neurophysin (NEUROPHYSINS).,"['Endocrine system disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Vesicle-mediated transport
MESH:D003920,Diabetes Mellitus,A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.,"['Endocrine system disease', 'Metabolic disease']",Wnt signaling pathway
MESH:D003921,"Diabetes Mellitus, Experimental",Diabetes mellitus induced experimentally by administration of various diabetogenic agents or by PANCREATECTOMY.,"['Endocrine system disease', 'Metabolic disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D003922,"Diabetes Mellitus, Type 1","A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.","['Endocrine system disease', 'Immune system disease', 'Metabolic disease']",Visual phototransduction
MESH:D003924,"Diabetes Mellitus, Type 2",A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.,"['Endocrine system disease', 'Metabolic disease']",Zinc transporters
MESH:D003925,Diabetic Angiopathies,VASCULAR DISEASES that are associated with DIABETES MELLITUS.,"['Cardiovascular disease', 'Endocrine system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D058065,Diabetic Cardiomyopathies,"Diabetes complications in which VENTRICULAR REMODELING in the absence of CORONARY ATHEROSCLEROSIS and hypertension results in cardiac dysfunctions, typically LEFT VENTRICULAR DYSFUNCTION. The changes also result in myocardial hypertrophy, myocardial necrosis and fibrosis, and collagen deposition due to impaired glucose tolerance.","['Cardiovascular disease', 'Endocrine system disease']",Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization
MESH:D016883,Diabetic Ketoacidosis,"A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA.","['Endocrine system disease', 'Metabolic disease']",Vesicle-mediated transport
MESH:D003928,Diabetic Nephropathies,"KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE.","['Endocrine system disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D003929,Diabetic Neuropathies,"Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)","['Endocrine system disease', 'Nervous system disease']",Viral myocarditis
MESH:D003930,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.","['Cardiovascular disease', 'Endocrine system disease', 'Eye disease']",Viral myocarditis
MESH:D003967,Diarrhea,"An increased liquidity or decreased consistency of FECES, such as running stool. Fecal consistency is related to the ratio of water-holding capacity of insoluble solids to total water, rather than the amount of water present. Diarrhea is not hyperdefecation or increased fecal weight.",['Signs and symptoms'],Vasopressin regulates renal water homeostasis via Aquaporins
MESH:D004195,"Disease Models, Animal",Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases.,['Animal disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D018450,Disease Progression,The worsening and general progression of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.,['Pathology (process)'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D004198,Disease Susceptibility,A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.,['Pathology (process)'],TRP channels
MESH:D012734,Disorders of Sex Development,"In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.","['Congenital abnormality', 'Endocrine system disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Visual phototransduction
MESH:D007174,"Disruptive, Impulse Control, and Conduct Disorders","Disorders whose essential features are the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the individual or to others. Individuals experience an increased sense of tension prior to the act and pleasure, gratification or release of tension at the time of committing the act.",['Mental disorder'],Signal Transduction
MESH:D004211,Disseminated Intravascular Coagulation,"A disorder characterized by procoagulant substances entering the general circulation causing a systemic thrombotic process. The activation of the clotting mechanism may arise from any of a number of disorders. A majority of the patients manifest skin lesions, sometimes leading to PURPURA FULMINANS.",['Blood disease'],Vasopressin-like receptors
MESH:D049310,Distal Myopathies,"A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.","['Genetic disease (inborn)', 'Musculoskeletal disease', 'Nervous system disease']",Viral myocarditis
MESH:D004283,Dog Diseases,"Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.",['Animal disease'],Vesicle-mediated transport
MESH:D004310,Double Outlet Right Ventricle,"Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted.","['Cardiovascular disease', 'Congenital abnormality']",Sphingolipid metabolism
MESH:D004314,Down Syndrome,"A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)","['Congenital abnormality', 'Genetic disease (inborn)', 'Nervous system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D003875,Drug Eruptions,"Adverse cutaneous reactions caused by ingestion, parenteral use, or local application of a drug. These may assume various morphologic patterns and produce various types of lesions.",['Skin disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D062787,Drug Overdose,Accidental or deliberate use of a medication or street drug in excess of normal dosage.,['Substance-related disorder'],Vesicle-mediated transport
MESH:D015352,Dry Eye Syndromes,"Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur.",['Eye disease'],UCH proteinases
MESH:D004370,Duane Retraction Syndrome,"A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.","['Eye disease', 'Genetic disease (inborn)', 'Nervous system disease']",Transcriptional regulation of pluripotent stem cells
MESH:D004374,"Ductus Arteriosus, Patent","A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that connects the PULMONARY ARTERY to the descending aorta (AORTA, DESCENDING) allowing unoxygenated blood to bypass the lung and flow to the PLACENTA. Normally, the ductus is closed shortly after birth.","['Cardiovascular disease', 'Congenital abnormality']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D004381,Duodenal Ulcer,A PEPTIC ULCER located in the DUODENUM.,['Digestive system disease'],Vesicle-mediated transport
MESH:D004401,Dysarthria,"Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)","['Nervous system disease', 'Signs and symptoms']",Signal Transduction
MESH:D004409,"Dyskinesia, Drug-Induced","Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)","['Nervous system disease', 'Signs and symptoms']",Visual phototransduction
MESH:D020820,Dyskinesias,"Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES.","['Nervous system disease', 'Signs and symptoms']","Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds"
MESH:D050171,Dyslipidemias,"Abnormalities in the serum levels of LIPIDS, including overproduction or deficiency. Abnormal serum lipid profiles may include high total CHOLESTEROL, high TRIGLYCERIDES, low HIGH DENSITY LIPOPROTEIN CHOLESTEROL, and elevated LOW DENSITY LIPOPROTEIN CHOLESTEROL.",['Metabolic disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D004412,Dysmenorrhea,Painful menstruation.,"['Pathology (process)', 'Signs and symptoms']",Vesicle-mediated transport
MESH:D004413,Dysostoses,"Defective bone formation involving individual bones, singly or in combination.",['Musculoskeletal disease'],Viral myocarditis
MESH:D004417,Dyspnea,Difficult or labored breathing.,"['Respiratory tract disease', 'Signs and symptoms']",cGMP-PKG signaling pathway
MESH:D020920,Dyssomnias,"A broad category of sleep disorders characterized by either hypersomnolence or insomnia. The three major subcategories include intrinsic (i.e., arising from within the body) (SLEEP DISORDERS, INTRINSIC), extrinsic (secondary to environmental conditions or various pathologic conditions), and disturbances of circadian rhythm. (From Thorpy, Sleep Disorders Medicine, 1994, p187)","['Mental disorder', 'Nervous system disease']",Circadian Clock
MESH:D004421,Dystonia,"An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)","['Nervous system disease', 'Signs and symptoms']",Xenobiotics
MESH:D020821,Dystonic Disorders,"Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset.",['Nervous system disease'],Vesicle-mediated transport
MESH:D004427,Ear Diseases,"Pathological processes of the ear, the hearing, and the equilibrium system of the body.",['Ear-nose-throat disease'],Transport of inorganic cations/anions and amino acids/oligopeptides
MESH:D004443,Echinococcosis,"An infection caused by the infestation of the larval form of tapeworms of the genus Echinococcus. The liver, lungs, and kidney are the most common areas of infestation.",['Parasitic disease'],Vesicle-mediated transport
MESH:D004476,Ectodermal Dysplasia,"A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.","['Congenital abnormality', 'Genetic disease (inborn)', 'Skin disease']",Wnt signaling pathway
MESH:D004485,Eczema,"A pruritic papulovesicular dermatitis occurring as a reaction to many endogenous and exogenous agents (Dorland, 27th ed).",['Skin disease'],Tuberculosis
MESH:D004487,Edema,Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE.,['Signs and symptoms'],Vitamin digestion and absorption
MESH:D004489,"Edema, Cardiac","Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME).","['Cardiovascular disease', 'Signs and symptoms']",Vasopressin regulates renal water homeostasis via Aquaporins
MESH:D004617,Embolism,Blocking of a blood vessel by an embolus which can be a blood clot or other undissolved material in the blood stream.,['Cardiovascular disease'],Transcriptional misregulation in cancer
MESH:D016769,Embolism and Thrombosis,"A collective term for pathological conditions which are caused by the formation of a blood clot (THROMBUS) in a blood vessel, or by blocking of a blood vessel with an EMBOLUS, undissolved materials in the blood stream.",['Cardiovascular disease'],Transcriptional misregulation in cancer
MESH:D017700,"Embolism, Cholesterol","Blocking of a blood vessel by CHOLESTEROL-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset.",['Cardiovascular disease'],Transcriptional misregulation in cancer
MESH:D020964,Embryo Loss,"Early pregnancy loss during the EMBRYO, MAMMALIAN stage of development. In the human, this period comprises the second through eighth week after fertilization.","['Pathology (process)', 'Pregnancy complication']",Viral carcinogenesis
MESH:D004646,Emphysema,A pathological accumulation of air in tissues or organs.,['Pathology (process)'],Wnt signaling pathway
MESH:D004660,Encephalitis,"Inflammation of the BRAIN due to infection, autoimmune processes, toxins, and other conditions. Viral infections (see ENCEPHALITIS, VIRAL) are a relatively frequent cause of this condition.",['Nervous system disease'],Signal Transduction
MESH:D020803,"Encephalitis, Herpes Simplex","An acute (or rarely chronic) inflammatory process of the brain caused by SIMPLEXVIRUS infections which may be fatal. The majority of infections are caused by human herpesvirus 1 (HERPESVIRUS 1, HUMAN) and less often by human herpesvirus 2 (HERPESVIRUS 2, HUMAN). Clinical manifestations include FEVER; HEADACHE; SEIZURES; HALLUCINATIONS; behavioral alterations; APHASIA; hemiparesis; and COMA. Pathologically, the condition is marked by a hemorrhagic necrosis involving the medial and inferior TEMPORAL LOBE and orbital regions of the FRONTAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, pp751-4)","['Nervous system disease', 'Viral disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D018792,"Encephalitis, Viral",Inflammation of brain parenchymal tissue as a result of viral infection. Encephalitis may occur as primary or secondary manifestation of TOGAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; BUNYAVIRIDAE INFECTIONS; PICORNAVIRIDAE INFECTIONS; PARAMYXOVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RETROVIRIDAE INFECTIONS; and ARENAVIRIDAE INFECTIONS.,"['Nervous system disease', 'Viral disease']",Vesicle-mediated transport
MESH:D004681,"Encephalomyelitis, Autoimmune, Experimental","An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)","['Immune system disease', 'Nervous system disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D004700,Endocrine System Diseases,"Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.",['Endocrine system disease'],Vibrio cholerae infection
MESH:D004714,Endometrial Hyperplasia,"Benign proliferation of the ENDOMETRIUM in the UTERUS. Endometrial hyperplasia is classified by its cytology and glandular tissue. There are simple, complex (adenomatous without atypia), and atypical hyperplasia representing also the ascending risk of becoming malignant.",['Urogenital disease (female)'],Ub-specific processing proteases
MESH:D016889,Endometrial Neoplasms,"Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells.","['Cancer', 'Urogenital disease (female)']",XBP1(S) activates chaperone genes
MESH:D004715,Endometriosis,"A condition in which functional endometrial tissue is present outside the UTERUS. It is often confined to the PELVIS involving the OVARY, the ligaments, cul-de-sac, and the uterovesical peritoneum.",['Urogenital disease (female)'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D004719,Endomyocardial Fibrosis,"A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE).",['Cardiovascular disease'],Vesicle-mediated transport
MESH:D019446,Endotoxemia,"A condition characterized by the presence of ENDOTOXINS in the blood. On lysis, the outer cell wall of gram-negative bacteria enters the systemic circulation and initiates a pathophysiologic cascade of pro-inflammatory mediators.",['Pathology (process)'],Urea cycle
MESH:D058625,End Stage Liver Disease,Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed.,['Digestive system disease'],Tyrosine metabolism
MESH:D004749,Entamoebiasis,"Infection with amoebae of the genus ENTAMOEBA. Infection with E. histolytica causes DYSENTERY, AMEBIC and LIVER ABSCESS, AMEBIC.",['Parasitic disease'],VEGFR2 mediated cell proliferation
MESH:D004751,Enteritis,Inflammation of any segment of the SMALL INTESTINE.,['Digestive system disease'],TNFs bind their physiological receptors
MESH:D004760,Enterocolitis,"Inflammation of the MUCOSA of both the SMALL INTESTINE and the LARGE INTESTINE. Etiology includes ISCHEMIA, infections, allergic, and immune responses.",['Digestive system disease'],Tuberculosis
MESH:D020345,"Enterocolitis, Necrotizing",ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT.,['Digestive system disease'],VEGF signaling pathway
MESH:D004769,Enterovirus Infections,Diseases caused by ENTEROVIRUS.,['Viral disease'],Vesicle-mediated transport
MESH:D004802,Eosinophilia,"Abnormal increase of EOSINOPHILS in the blood, tissues or organs.",['Blood disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D016603,Eosinophilia-Myalgia Syndrome,"A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)","['Blood disease', 'Musculoskeletal disease', 'Nervous system disease']",Viral myocarditis
MESH:D004806,Ependymoma,"Glioma derived from EPENDYMOGLIAL CELLS that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors. (From DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9)",['Cancer'],Vesicle-mediated transport
MESH:D004820,Epidermolysis Bullosa,"Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.","['Congenital abnormality', 'Genetic disease (inborn)', 'Skin disease']",Type I hemidesmosome assembly
MESH:D004831,"Epilepsies, Myoclonic","A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic.",['Nervous system disease'],VEGFR2 mediated cell proliferation
MESH:D004827,Epilepsy,"A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)",['Nervous system disease'],Voltage gated Potassium channels
MESH:D004832,"Epilepsy, Absence","A seizure disorder usually occurring in childhood characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)",['Nervous system disease'],Type II diabetes mellitus
MESH:D020936,"Epilepsy, Benign Neonatal","A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)","['Infant-newborn disease', 'Nervous system disease']",Voltage gated Potassium channels
MESH:D017029,"Epilepsy, Complex Partial","A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)",['Nervous system disease'],Taste transduction
MESH:D004829,"Epilepsy, Generalized","Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)",['Nervous system disease'],Transmission across Chemical Synapses
MESH:D019305,"Epilepsy, Rolandic","An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and DYSARTHRIA. In most cases, affected children are neurologically and developmentally normal. (From Epilepsia 1998 39;Suppl 4:S32-S41)",['Nervous system disease'],VEGFR2 mediated cell proliferation
MESH:D004833,"Epilepsy, Temporal Lobe","A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the TEMPORAL LOBE, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic. (From Adams et al., Principles of Neurology, 6th ed, p321).",['Nervous system disease'],Voltage gated Potassium channels
MESH:D004830,"Epilepsy, Tonic-Clonic","A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)",['Nervous system disease'],Xenobiotics
MESH:D007172,Erectile Dysfunction,The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction.,"['Mental disorder', 'Urogenital disease (male)']",VEGF signaling pathway
MESH:D004890,Erythema,Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of disease processes.,"['Signs and symptoms', 'Skin disease']",Tuberculosis
MESH:D004892,Erythema Multiforme,"A skin and mucous membrane disease characterized by an eruption of macules, papules, nodules, vesicles, and/or bullae with characteristic 'bull's-eye' lesions usually occurring on the dorsal aspect of the hands and forearms.",['Skin disease'],Staphylococcus aureus infection
MESH:D004916,Erythromelalgia,"A peripheral arterial disease that is characterized by the triad of ERYTHEMA, burning PAIN, and increased SKIN TEMPERATURE of the extremities (or red, painful extremities). Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. Secondary erythromelalgia is associated with other diseases, the most common being MYELOPROLIFERATIVE DISORDERS.",['Cardiovascular disease'],Taste transduction
MESH:D004927,Escherichia coli Infections,Infections with bacteria of the species ESCHERICHIA COLI.,['Bacterial infection or mycosis'],Transmembrane transport of small molecules
MESH:D004932,Esophageal and Gastric Varices,"Dilated blood vessels in the ESOPHAGUS or GASTRIC FUNDUS that shunt blood from the portal circulation (PORTAL SYSTEM) to the systemic venous circulation. Often they are observed in individuals with portal hypertension (HYPERTENSION, PORTAL).",['Digestive system disease'],Signal Transduction
MESH:D004935,Esophageal Diseases,Pathological processes in the ESOPHAGUS.,['Digestive system disease'],TRP channels
MESH:D004938,Esophageal Neoplasms,Tumors or cancer of the ESOPHAGUS.,"['Cancer', 'Digestive system disease']",Zinc transporters
MESH:D000077277,Esophageal Squamous Cell Carcinoma,"A carcinoma that originates usually from cells on the surface of the middle and lower third of the ESOPHAGUS. Tumor cells exhibit typical squamous morphology and form large polypoid lesions. Mutations in RNF6, LZTS1, TGFBR2, DEC1, and WWOX1 genes are associated with this cancer.","['Cancer', 'Digestive system disease']",Zinc transporters
MESH:D004940,Esophageal Stenosis,A stricture of the ESOPHAGUS. Most are acquired but can be congenital.,['Digestive system disease'],Peroxisome
MESH:D004941,Esophagitis,"INFLAMMATION, acute or chronic, of the ESOPHAGUS caused by BACTERIA, chemicals, or TRAUMA.",['Digestive system disease'],TRP channels
MESH:D004942,"Esophagitis, Peptic",INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM.,['Digestive system disease'],Unfolded Protein Response (UPR)
MESH:D000075222,Essential Hypertension,"Hypertension that occurs without known cause, or preexisting renal disease. Associated polymorphisms for a number of genes have been identified, including AGT, GNB3, and ECE1. OMIM: 145500",['Cardiovascular disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D020329,Essential Tremor,"A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)",['Nervous system disease'],Transmission across Chemical Synapses
MESH:D005076,Exanthema,"Diseases in which skin eruptions or rashes are a prominent manifestation. Classically, six such diseases were described with similar rashes; they were numbered in the order in which they were reported. Only the fourth (Duke's disease), fifth (ERYTHEMA INFECTIOSUM), and sixth (EXANTHEMA SUBITUM) numeric designations survive as occasional synonyms in current terminology.",['Skin disease'],Viral myocarditis
MESH:D017889,Exfoliation Syndrome,"The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)",['Eye disease'],Type II diabetes mellitus
MESH:D005119,Extravasation of Diagnostic and Therapeutic Materials,The escape of diagnostic or therapeutic material from the vessel into which it is introduced into the surrounding tissue or body cavity.,"['Pathology (process)', 'Wounds and injuries']",Tachykinin receptors bind tachykinins
MESH:D005124,Eye Abnormalities,Congenital absence of or defects in structures of the eye; may also be hereditary.,"['Congenital abnormality', 'Eye disease']",Wnt signaling pathway
MESH:D005128,Eye Diseases,Diseases affecting the eye.,['Eye disease'],Signal Transduction
MESH:D005131,Eye Injuries,Damage or trauma inflicted to the eye by external means. The concept includes both surface injuries and intraocular injuries.,"['Eye disease', 'Nervous system disease', 'Wounds and injuries']",MicroRNAs in cancer
MESH:D005141,Eyelid Diseases,Diseases involving the EYELIDS.,['Eye disease'],VEGFR2 mediated cell proliferation
MESH:D005132,Eye Manifestations,Ocular disorders attendant upon non-ocular disease or injury.,"['Eye disease', 'Signs and symptoms']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D005134,Eye Neoplasms,Tumors or cancer of the EYE.,"['Cancer', 'Eye disease']",VEGF signaling pathway
MESH:D058447,Eye Pain,"A dull or sharp painful sensation associated with the outer or inner structures of the eyeball, having different causes.","['Eye disease', 'Signs and symptoms']",Signal Transduction
MESH:D005146,Facial Asymmetry,Congenital or acquired asymmetry of the face.,['Pathology (anatomical condition)'],Transcriptional regulation of pluripotent stem cells
MESH:D005148,Facial Dermatoses,Skin diseases involving the FACE.,['Skin disease'],Terminal pathway of complement
MESH:D005158,Facial Paralysis,Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis.,"['Mouth disease', 'Nervous system disease', 'Signs and symptoms']",Signal Transduction
MESH:D019066,Facies,"The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)",['Pathology (process)'],Wnt signaling pathway
MESH:D005183,Failure to Thrive,A condition of substandard growth or diminished capacity to maintain normal function.,['Signs and symptoms'],Viral myocarditis
MESH:D053098,Familial Hypophosphatemic Rickets,A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported.,"['Genetic disease (inborn)', 'Metabolic disease', 'Musculoskeletal disease', 'Nutrition disorder', 'Urogenital disease (female)', 'Urogenital disease (male)']",Transmembrane transport of small molecules
MESH:D010505,Familial Mediterranean Fever,"A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene encoding PYRIN result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease also exists with mutations in the same gene.",['Genetic disease (inborn)'],The NLRP3 inflammasome
MESH:D005199,Fanconi Anemia,"Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)","['Blood disease', 'Genetic disease (inborn)', 'Metabolic disease']",Ubiquitin mediated proteolysis
MESH:D005198,Fanconi Syndrome,A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.,"['Genetic disease (inborn)', 'Urogenital disease (female)', 'Urogenital disease (male)']","Valine, leucine and isoleucine degradation"
MESH:D005207,Fasciculation,"Involuntary contraction of the muscle fibers innervated by a motor unit. Fasciculations may be visualized as a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb. They may represent a benign condition or occur as a manifestation of MOTOR NEURON DISEASE or PERIPHERAL NERVOUS SYSTEM DISEASES. (Adams et al., Principles of Neurology, 6th ed, p1294)","['Nervous system disease', 'Signs and symptoms']",Transmission across Chemical Synapses
MESH:D005221,Fatigue,"The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli.",['Signs and symptoms'],UCH proteinases
MESH:D005234,Fatty Liver,"Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS.",['Digestive system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D005235,"Fatty Liver, Alcoholic","Lipid infiltration of the hepatic parenchymal cells that is due to ALCOHOL ABUSE. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of TRIGLYCERIDES accumulated.","['Digestive system disease', 'Substance-related disorder']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D001068,Feeding and Eating Disorders,A group of disorders characterized by physiological and psychological disturbances in appetite or food intake.,['Mental disorder'],Signal Transduction
MESH:D052776,Female Urogenital Diseases,"Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE).",['Urogenital disease (female)'],Wnt signaling pathway
MESH:D005262,Feminization,"Development of female secondary SEX CHARACTERISTICS in the MALE. It is due to the effects of estrogenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs.",['Signs and symptoms'],Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
MESH:D005264,Femoral Fractures,Fractures of the femur.,['Wounds and injuries'],TGF-beta signaling pathway
MESH:D005271,Femur Head Necrosis,"Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE.","['Musculoskeletal disease', 'Pathology (process)']",TRP channels
MESH:D063647,Fetal Alcohol Spectrum Disorders,"An umbrella term used to describe a pattern of disabilities and abnormalities that result from fetal exposure to ETHANOL during pregnancy. It encompasses a phenotypic range that can vary greatly between individuals, but reliably includes one or more of the following: characteristic facial dysmorphism, FETAL GROWTH RETARDATION, central nervous system abnormalities, cognitive and/or behavioral dysfunction, BIRTH DEFECTS. The level of maternal alcohol consumption does not necessarily correlate directly with disease severity.","['Fetal disease', 'Pregnancy complication', 'Substance-related disorder']",Vesicle-mediated transport
MESH:D005313,Fetal Death,Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.,"['Pathology (process)', 'Pregnancy complication']",Visual phototransduction
MESH:D005315,Fetal Diseases,Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.,"['Fetal disease', 'Pregnancy complication']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D005316,Fetal Distress,A nonreassuring fetal status (NRFS) indicating that the FETUS is compromised (American College of Obstetricians and Gynecologists 1988). It can be identified by sub-optimal values in FETAL HEART RATE; oxygenation of FETAL BLOOD; and other parameters.,['Signs and symptoms'],Vasopressin-like receptors
MESH:D005317,Fetal Growth Retardation,Failure of a FETUS to attain expected GROWTH.,"['Fetal disease', 'Pathology (process)', 'Pregnancy complication']",Visual phototransduction
MESH:D005327,Fetal Resorption,"The disintegration and assimilation of the dead FETUS in the UTERUS at any stage after the completion of organogenesis which, in humans, is after the 9th week of GESTATION. It does not include embryo resorption (see EMBRYO LOSS).","['Pathology (process)', 'Pregnancy complication']",Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
MESH:D005334,Fever,"An abnormal elevation of body temperature, usually as a result of a pathologic process.",['Signs and symptoms'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D018226,Fibroadenoma,"An adenoma containing fibrous tissue. It should be differentiated from ADENOFIBROMA which is a tumor composed of connective tissue (fibroma) containing glandular (adeno-) structures. (From Dorland, 27th ed)",['Cancer'],Transcriptional regulation of white adipocyte differentiation
MESH:D005350,Fibroma,A benign tumor of fibrous or fully developed connective tissue.,['Cancer'],Uptake and function of anthrax toxins
MESH:D018221,"Fibromatosis, Abdominal","A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)",['Cancer'],Wnt signaling pathway
MESH:D018222,"Fibromatosis, Aggressive","A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed)",['Cancer'],Wnt signaling pathway
MESH:D005354,Fibrosarcoma,"A sarcoma derived from deep fibrous tissue, characterized by bundles of immature proliferating fibroblasts with variable collagen formation, which tends to invade locally and metastasize by the bloodstream. (Stedman, 25th ed)",['Cancer'],VEGFR2 mediated cell proliferation
MESH:D005355,Fibrosis,"Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury.",['Pathology (process)'],Wnt signaling pathway
MESH:D005357,Fibrous Dysplasia of Bone,"A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).",['Musculoskeletal disease'],Ubiquitin mediated proteolysis
MESH:D018177,Flavivirus Infections,"Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE.",['Viral disease'],Tuberculosis
MESH:D005483,Flushing,"A transient reddening of the face that may be due to fever, certain drugs, exertion, or stress.",['Signs and symptoms'],Vasopressin-like receptors
MESH:D005494,Folic Acid Deficiency,"A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)",['Nutrition disorder'],"Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation"
MESH:D005497,Follicular Cyst,Cyst due to the occlusion of the duct of a follicle or small gland.,['Cancer'],Vitamin digestion and absorption
MESH:D005512,Food Hypersensitivity,"Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food.",['Immune system disease'],"Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds"
MESH:D005532,"Foot Deformities, Congenital",Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.,"['Congenital abnormality', 'Musculoskeletal disease']",XBP1(S) activates chaperone genes
MESH:D050723,"Fractures, Bone",Breaks in bones.,['Wounds and injuries'],Wnt signaling pathway
MESH:D005596,"Fractures, Closed",Fractures in which the break in bone is not accompanied by an external wound.,['Wounds and injuries'],Toxoplasmosis
MESH:D005600,Fragile X Syndrome,"A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)","['Congenital abnormality', 'Genetic disease (inborn)', 'Nervous system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D005621,Friedreich Ataxia,"An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)","['Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease']",Porphyrin and chlorophyll metabolism
MESH:D057180,Frontotemporal Dementia,"The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight.","['Mental disorder', 'Metabolic disease', 'Nervous system disease']",Wnt signaling pathway
MESH:D020234,Gait Ataxia,Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES.,"['Nervous system disease', 'Signs and symptoms']",Ub-specific processing proteases
MESH:D020233,"Gait Disorders, Neurologic","Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES.","['Nervous system disease', 'Signs and symptoms']",Signal transduction by L1
MESH:D005687,Galactorrhea,"Excessive or inappropriate LACTATION in females or males, and not necessarily related to PREGNANCY. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is HYPERPROLACTINEMIA.","['Pregnancy complication', 'Skin disease']",Prolactin signaling pathway
MESH:D005706,Gallbladder Neoplasms,Tumors or cancer of the gallbladder.,"['Cancer', 'Digestive system disease']",Wnt signaling pathway
MESH:D042882,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.","['Digestive system disease', 'Pathology (anatomical condition)']",Vibrio cholerae infection
MESH:D005715,Gambling,"An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money.",['Mental disorder'],Signal Transduction
MESH:D005759,Gastroenteritis,"INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER.",['Digestive system disease'],Signal Transduction
MESH:D005761,"Gastroenteritis, Transmissible, of Swine",A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a CORONAVIRUS.,"['Animal disease', 'Viral disease']",Transmembrane transport of small molecules
MESH:D005764,Gastroesophageal Reflux,"Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER.",['Digestive system disease'],VEGF signaling pathway
MESH:D005767,Gastrointestinal Diseases,Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.,['Digestive system disease'],Wnt signaling pathway
MESH:D006471,Gastrointestinal Hemorrhage,Bleeding in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.,"['Digestive system disease', 'Pathology (process)']",Wnt signaling pathway
MESH:D005770,Gastrointestinal Neoplasms,"Tumors or cancer of the GASTROINTESTINAL TRACT, from the MOUTH to the ANAL CANAL.","['Cancer', 'Digestive system disease']",Wnt signaling pathway
MESH:D046152,Gastrointestinal Stromal Tumors,All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA).,"['Cancer', 'Digestive system disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D018589,Gastroparesis,Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS.,"['Digestive system disease', 'Signs and symptoms']",Transmembrane transport of small molecules
MESH:D005776,Gaucher Disease,"An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.","['Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease']",Sphingolipid metabolism
MESH:D030342,"Genetic Diseases, Inborn","Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.",['Genetic disease (inborn)'],Tuberculosis
MESH:D005832,"Genital Diseases, Male","Pathological processes involving the male reproductive tract (GENITALIA, MALE).",['Urogenital disease (male)'],Ub-specific processing proteases
MESH:D005833,"Genital Neoplasms, Female","Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE).","['Cancer', 'Urogenital disease (female)']",Vesicle-mediated transport
MESH:D042822,Genomic Instability,An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.,['Pathology (process)'],Wnt signaling pathway
MESH:D018212,Giant Cell Tumor of Bone,"A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. The tumors range from benign to frankly malignant lesions. The tumor occurs most frequently in an end of a long tubular bone in young adults. (From Dorland, 27th ed; Stedman, 25th ed)",['Cancer'],Transcriptional regulation by small RNAs
MESH:D005885,Gingival Hyperplasia,"Non-inflammatory enlargement of the gingivae produced by factors other than local irritation. It is characteristically due to an increase in the number of cells. (From Jablonski's Dictionary of Dentistry, 1992, p400)",['Mouth disease'],VEGFR2 mediated cell proliferation
MESH:D005886,Gingival Hypertrophy,Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells.,['Mouth disease'],Uptake and function of anthrax toxins
MESH:D005891,Gingivitis,Inflammation of gum tissue (GINGIVA) without loss of connective tissue.,['Mouth disease'],TNFs bind their physiological receptors
MESH:D005901,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)",['Eye disease'],Viral carcinogenesis
MESH:D015812,"Glaucoma, Angle-Closure",A form of glaucoma in which the intraocular pressure increases because the angle of the anterior chamber is blocked and the aqueous humor cannot drain from the anterior chamber.,['Eye disease'],Transmission across Chemical Synapses
MESH:D005902,"Glaucoma, Open-Angle",Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris.,['Eye disease'],Viral myocarditis
MESH:D005909,Glioblastoma,"A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures.",['Cancer'],Wnt signaling pathway
MESH:D005910,Glioma,"Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas (ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas (OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle. (From Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21)",['Cancer'],XBP1(S) activates chaperone genes
MESH:D018316,Gliosarcoma,"Rare mixed tumors of the brain and rarely the spinal cord which contain malignant neuroectodermal (glial) and mesenchymal components, including spindle-shaped fibrosarcoma cells. These tumors are highly aggressive and present primarily in adults as rapidly expanding mass lesions. They may arise in tissue that has been previously irradiated. (From Br J Neurosurg 1995 Apr;9(2):171-8)",['Cancer'],Xenobiotics
MESH:D005911,Gliosis,"The production of a dense fibrous network of neuroglia; includes astrocytosis, which is a proliferation of astrocytes in the area of a degenerative lesion.",['Pathology (process)'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D005921,Glomerulonephritis,"Inflammation of the renal glomeruli (KIDNEY GLOMERULUS) that can be classified by the type of glomerular injuries including antibody deposition, complement activation, cellular proliferation, and glomerulosclerosis. These structural and functional abnormalities usually lead to HEMATURIA; PROTEINURIA; HYPERTENSION; and RENAL INSUFFICIENCY.","['Urogenital disease (female)', 'Urogenital disease (male)']",Vesicle-mediated transport
MESH:D005922,"Glomerulonephritis, IGA",A chronic form of glomerulonephritis characterized by deposits of predominantly IMMUNOGLOBULIN A in the mesangial area (GLOMERULAR MESANGIUM). Deposits of COMPLEMENT C3 and IMMUNOGLOBULIN G are also often found. Clinical features may progress from asymptomatic HEMATURIA to END-STAGE KIDNEY DISEASE.,"['Immune system disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Viral myocarditis
MESH:D015432,"Glomerulonephritis, Membranoproliferative","Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN.","['Immune system disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Vesicle-mediated transport
MESH:D015433,"Glomerulonephritis, Membranous","A type of glomerulonephritis that is characterized by the accumulation of immune deposits (COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane.","['Immune system disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Vitamin digestion and absorption
MESH:D005923,"Glomerulosclerosis, Focal Segmental","A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE.","['Urogenital disease (female)', 'Urogenital disease (male)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D018149,Glucose Intolerance,"A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION.",['Metabolic disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D044882,Glucose Metabolism Disorders,"Pathological conditions in which the BLOOD GLUCOSE cannot be maintained within the normal range, such as in HYPOGLYCEMIA and HYPERGLYCEMIA. Etiology of these disorders varies. Plasma glucose concentration is critical to survival for it is the predominant fuel for the CENTRAL NERVOUS SYSTEM.",['Metabolic disease'],Signal Transduction
MESH:D006008,Glycogen Storage Disease,"A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.","['Genetic disease (inborn)', 'Metabolic disease']",Starch and sucrose metabolism
MESH:D006030,"Glycosuria, Renal",An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.,"['Genetic disease (inborn)', 'Metabolic disease', 'Urogenital disease (female)', 'Urogenital disease (male)']","Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds"
MESH:D006042,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).",['Endocrine system disease'],Tyrosine metabolism
MESH:D006044,"Goiter, Nodular","An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS.",['Endocrine system disease'],Tuberculosis
MESH:D006053,Goldenhar Syndrome,Mandibulofacial dysostosis with congenital eyelid dermoids.,"['Congenital abnormality', 'Musculoskeletal disease']","Spliceosome, U2-snRNP"
MESH:D006059,Gonadal Dysgenesis,"A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.","['Congenital abnormality', 'Endocrine system disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",RNA transport
MESH:D006073,Gout,"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.","['Genetic disease (inborn)', 'Metabolic disease', 'Musculoskeletal disease']",Type I diabetes mellitus
MESH:D006083,"Graft Occlusion, Vascular",Obstruction of flow in biological or prosthetic vascular grafts.,['Pathology (process)'],Transcriptional misregulation in cancer
MESH:D006086,Graft vs Host Disease,"The clinical entity characterized by anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the GRAFT VS HOST REACTION.",['Immune system disease'],Type I diabetes mellitus
MESH:D016905,Gram-Negative Bacterial Infections,Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.,['Bacterial infection or mycosis'],Neutrophil degranulation
MESH:D016908,Gram-Positive Bacterial Infections,Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.,['Bacterial infection or mycosis'],Neutrophil degranulation
MESH:D015745,"Granuloma, Foreign-Body","Histiocytic, inflammatory response to a foreign body. It consists of modified macrophages with multinucleated giant cells, in this case foreign-body giant cells (GIANT CELLS, FOREIGN-BODY), usually surrounded by lymphocytes.","['Pathology (process)', 'Wounds and injuries']",Tuberculosis
MESH:D006104,"Granuloma, Plasma Cell",A slow-growing benign pseudotumor in which plasma cells greatly outnumber the inflammatory cells.,['Pathology (process)'],Vpr-mediated nuclear import of PICs
MESH:D014890,Granulomatosis with Polyangiitis,A multisystemic disease of a complex genetic background. It is characterized by inflammation of the blood vessels (VASCULITIS) leading to damage in any number of organs. The common features include granulomatous inflammation of the RESPIRATORY TRACT and KIDNEYS. Most patients have measurable autoantibodies (ANTINEUTROPHIL CYTOPLASMIC ANTIBODIES) against MYELOBLASTIN.,"['Cardiovascular disease', 'Immune system disease', 'Respiratory tract disease', 'Skin disease']",Tuberculosis
MESH:D006106,Granulosa Cell Tumor,"A neoplasm composed entirely of GRANULOSA CELLS, occurring mostly in the OVARY. In the adult form, it may contain some THECA CELLS. This tumor often produces ESTRADIOL and INHIBIN. The excess estrogen exposure can lead to other malignancies in women and PRECOCIOUS PUBERTY in girls. In rare cases, granulosa cell tumors have been identified in the TESTES.","['Cancer', 'Endocrine system disease', 'Urogenital disease (female)']",Signal Transduction
MESH:D006111,Graves Disease,"A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes (GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy).","['Endocrine system disease', 'Eye disease', 'Immune system disease']",Vpu mediated degradation of CD4
MESH:D049970,Graves Ophthalmopathy,"An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy.","['Endocrine system disease', 'Eye disease', 'Genetic disease (inborn)', 'Immune system disease']",VEGF signaling pathway
MESH:D006130,Growth Disorders,"Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.",['Pathology (process)'],Xenobiotics
MESH:D049912,Growth Hormone-Secreting Pituitary Adenoma,"A pituitary tumor that secretes GROWTH HORMONE. In humans, excess HUMAN GROWTH HORMONE leads to ACROMEGALY.","['Cancer', 'Endocrine system disease', 'Nervous system disease']",Vibrio cholerae infection
MESH:D006177,Gynecomastia,"Enlargement of the BREAST in the males, caused by an excess of ESTROGENS. Physiological gynecomastia is normally observed in NEWBORNS; ADOLESCENT; and AGING males.",['Skin disease'],Prolactin signaling pathway
MESH:D006201,Hair Diseases,Diseases affecting the orderly growth and persistence of hair.,['Skin disease'],Urea cycle
MESH:D006212,Hallucinations,"Subjectively experienced sensations in the absence of an appropriate stimulus, but which are regarded by the individual as real. They may be of organic origin or associated with MENTAL DISORDERS.","['Nervous system disease', 'Signs and symptoms']",Signal Transduction
MESH:D006222,Hamartoma,"A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area.",['Cancer'],Xenobiotics
MESH:D006228,"Hand Deformities, Congenital",Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.,"['Congenital abnormality', 'Musculoskeletal disease']",XBP1(S) activates chaperone genes
MESH:D050031,Hashimoto Disease,"Chronic autoimmune thyroiditis, characterized by the presence of high serum thyroid AUTOANTIBODIES; GOITER; and HYPOTHYROIDISM.",['Endocrine system disease'],Tuberculosis
MESH:D006261,Headache,The symptom of PAIN in the cranial region. It may be an isolated benign occurrence or manifestation of a wide variety of HEADACHE DISORDERS.,['Signs and symptoms'],Vasopressin-like receptors
MESH:D006258,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)",['Cancer'],Viral carcinogenesis
MESH:D006311,Hearing Disorders,"Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways.","['Ear-nose-throat disease', 'Nervous system disease', 'Signs and symptoms']",Small interfering RNA (siRNA) biogenesis
MESH:D034381,Hearing Loss,A general term for the complete or partial loss of the ability to hear from one or both ears.,"['Ear-nose-throat disease', 'Nervous system disease', 'Signs and symptoms']",Visual phototransduction
MESH:D006314,"Hearing Loss, Conductive",Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.,"['Ear-nose-throat disease', 'Nervous system disease', 'Signs and symptoms']",Transcriptional misregulation in cancer
MESH:D006317,"Hearing Loss, Noise-Induced",Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz.,"['Ear-nose-throat disease', 'Nervous system disease', 'Signs and symptoms']",Voltage gated Potassium channels
MESH:D006319,"Hearing Loss, Sensorineural",Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.,"['Ear-nose-throat disease', 'Nervous system disease', 'Signs and symptoms']",Vitamin D (calciferol) metabolism
MESH:D003639,"Hearing Loss, Sudden","Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.","['Ear-nose-throat disease', 'Nervous system disease', 'Signs and symptoms']",One carbon pool by folate
MESH:D006323,Heart Arrest,"Cessation of heart beat or MYOCARDIAL CONTRACTION. If it is treated within a few minutes, heart arrest can be reversed in most cases to normal cardiac rhythm and effective circulation.",['Cardiovascular disease'],Vesicle-mediated transport
MESH:D006327,Heart Block,"Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.","['Cardiovascular disease', 'Pathology (process)']",XBP1(S) activates chaperone genes
MESH:D006356,Heartburn,"Substernal pain or burning sensation, usually associated with regurgitation of gastric juice into the esophagus.",['Signs and symptoms'],TRP channels
MESH:D006330,"Heart Defects, Congenital",Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.,"['Cardiovascular disease', 'Congenital abnormality']",Xenobiotics
MESH:D006331,Heart Diseases,Pathological conditions involving the HEART including its structural and functional abnormalities.,['Cardiovascular disease'],Wnt signaling pathway
MESH:D006333,Heart Failure,"A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.",['Cardiovascular disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D054144,"Heart Failure, Diastolic",Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling.,['Cardiovascular disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D054143,"Heart Failure, Systolic",Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying.,['Cardiovascular disease'],Molecules associated with elastic fibres
MESH:D006335,Heart Injuries,General or unspecified injuries to the heart.,['Wounds and injuries'],"Valine, leucine and isoleucine degradation"
MESH:D006342,"Heart Rupture, Post-Infarction",Laceration or tearing of cardiac tissues appearing after MYOCARDIAL INFARCTION.,['Cardiovascular disease'],Transcriptional misregulation in cancer
MESH:D006343,Heart Septal Defects,"Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both.","['Cardiovascular disease', 'Congenital abnormality']",Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
MESH:D006344,"Heart Septal Defects, Atrial","Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects.","['Cardiovascular disease', 'Congenital abnormality']",Viral myocarditis
MESH:D006345,"Heart Septal Defects, Ventricular","Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.","['Cardiovascular disease', 'Congenital abnormality']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D006349,Heart Valve Diseases,Pathological conditions involving any of the various HEART VALVES and the associated structures (PAPILLARY MUSCLES and CHORDAE TENDINEAE).,['Cardiovascular disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D018883,Heat Stroke,"A condition caused by the failure of body to dissipate heat in an excessively hot environment or during PHYSICAL EXERTION in a hot environment. Contrast to HEAT EXHAUSTION, the body temperature in heat stroke patient is dangerously high with red, hot skin accompanied by DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly.",['Wounds and injuries'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D016481,Helicobacter Infections,"Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.",['Bacterial infection or mycosis'],Viral carcinogenesis
MESH:D018325,Hemangioblastoma,"A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2)",['Cancer'],Ub-specific processing proteases
MESH:D006391,Hemangioma,"A vascular anomaly due to proliferation of BLOOD VESSELS that forms a tumor-like mass. The common types involve CAPILLARIES and VEINS. It can occur anywhere in the body but is most frequently noticed in the SKIN and SUBCUTANEOUS TISSUE. (from Stedman, 27th ed, 2000)",['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D006394,Hemangiosarcoma,"A rare malignant neoplasm characterized by rapidly proliferating, extensively infiltrating, anaplastic cells derived from blood vessels and lining irregular blood-filled or lumpy spaces. (Stedman, 25th ed)",['Cancer'],Wnt signaling pathway
MESH:D006402,Hematologic Diseases,Disorders of the blood and blood forming tissues.,['Blood disease'],Type I diabetes mellitus
MESH:D019337,Hematologic Neoplasms,"Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). The commonest forms are the various types of LEUKEMIA, of LYMPHOMA, and of the progressive, life-threatening forms of the MYELODYSPLASTIC SYNDROMES.","['Blood disease', 'Cancer']",Unfolded Protein Response (UPR)
MESH:D006406,Hematoma,"A collection of blood outside the BLOOD VESSELS. Hematoma can be localized in an organ, space, or tissue.",['Pathology (process)'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D046748,"Hematoma, Epidural, Spinal","A rare epidural hematoma in the spinal epidural space, usually due to a vascular malformation (CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS) or TRAUMA. Spontaneous spinal epidural hematoma is a neurologic emergency due to a rapidly evolving compressive MYELOPATHY.",['Pathology (process)'],Transcriptional misregulation in cancer
MESH:D006408,"Hematoma, Subdural","Accumulation of blood in the SUBDURAL SPACE between the DURA MATER and the arachnoidal layer of the MENINGES. This condition primarily occurs over the surface of a CEREBRAL HEMISPHERE, but may develop in the spinal canal (HEMATOMA, SUBDURAL, SPINAL). Subdural hematoma can be classified as the acute or the chronic form, with immediate or delayed symptom onset, respectively. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status.","['Cardiovascular disease', 'Nervous system disease', 'Pathology (process)', 'Wounds and injuries']",Transcriptional misregulation in cancer
MESH:D020199,"Hematoma, Subdural, Acute","Accumulation of blood in the SUBDURAL SPACE with acute onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status.","['Cardiovascular disease', 'Nervous system disease', 'Pathology (process)', 'Wounds and injuries']",Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
MESH:D006417,Hematuria,Presence of blood in the urine.,"['Pathology (process)', 'Urogenital disease (female)', 'Urogenital disease (male)']",Xenobiotics
MESH:D006429,Hemiplegia,"Severe or complete loss of motor function on one side of the body. This condition is usually caused by BRAIN DISEASES that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, BRAIN STEM lesions; cervical SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; and other conditions may manifest as hemiplegia. The term hemiparesis (see PARESIS) refers to mild to moderate weakness involving one side of the body.","['Nervous system disease', 'Signs and symptoms']",Transport to the Golgi and subsequent modification
MESH:D006432,Hemochromatosis,"A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)","['Genetic disease (inborn)', 'Metabolic disease']",Vesicle-mediated transport
MESH:D006457,"Hemoglobinuria, Paroxysmal","A condition characterized by the recurrence of HEMOGLOBINURIA caused by intravascular HEMOLYSIS. In cases occurring upon cold exposure (paroxysmal cold hemoglobinuria), usually after infections, there is a circulating antibody which is also a cold hemolysin. In cases occurring during or after sleep (paroxysmal nocturnal hemoglobinuria), the clonal hematopoietic stem cells exhibit a global deficiency of cell membrane proteins.",['Blood disease'],Synthesis of glycosylphosphatidylinositol (GPI)
MESH:D006461,Hemolysis,"The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.",['Pathology (process)'],Vesicle-mediated transport
MESH:D006463,Hemolytic-Uremic Syndrome,"A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.","['Blood disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Vesicle-mediated transport
MESH:D006467,Hemophilia A,The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.,"['Blood disease', 'Genetic disease (inborn)']",Vesicle-mediated transport
MESH:D006470,Hemorrhage,Bleeding or escape of blood from a vessel.,['Pathology (process)'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D006474,Hemorrhagic Disorders,Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).,['Blood disease'],Vibrio cholerae infection
MESH:D006484,Hemorrhoids,"Swollen veins in the lower part of the RECTUM or ANUS. Hemorrhoids can be inside the anus (internal), under the skin around the anus (external), or protruding from inside to outside of the anus. People with hemorrhoids may or may not exhibit symptoms which include bleeding, itching, and pain.","['Cardiovascular disease', 'Digestive system disease']",Synthesis of 5-eicosatetraenoic acids
MESH:D006501,Hepatic Encephalopathy,"A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)","['Digestive system disease', 'Metabolic disease', 'Nervous system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D048550,Hepatic Insufficiency,Conditions in which the LIVER functions fall below the normal ranges. Severe hepatic insufficiency may cause LIVER FAILURE or DEATH. Treatment may include LIVER TRANSPLANTATION.,['Digestive system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D006504,Hepatic Veno-Occlusive Disease,"Liver disease that is caused by injuries to the ENDOTHELIAL CELLS of the vessels and subendothelial EDEMA, but not by THROMBOSIS. Extracellular matrix, rich in FIBRONECTINS, is usually deposited around the HEPATIC VEINS leading to venous outflow occlusion and sinusoidal obstruction.","['Cardiovascular disease', 'Digestive system disease']",Tight junction
MESH:D006505,Hepatitis,INFLAMMATION of the LIVER.,['Digestive system disease'],Vitamin B5 (pantothenate) metabolism
MESH:D006519,"Hepatitis, Alcoholic","INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS.","['Digestive system disease', 'Substance-related disorder']",Unfolded Protein Response (UPR)
MESH:D006520,"Hepatitis, Animal",INFLAMMATION of the LIVER in non-human animals.,"['Animal disease', 'Digestive system disease']",Transmembrane transport of small molecules
MESH:D019693,"Hepatitis, Autoimmune","A chronic self-perpetuating hepatocellular INFLAMMATION of unknown cause, usually with HYPERGAMMAGLOBULINEMIA and serum AUTOANTIBODIES.","['Digestive system disease', 'Immune system disease']",VEGFR2 mediated cell proliferation
MESH:D006509,Hepatitis B,"INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.","['Digestive system disease', 'Viral disease']",Xenobiotics
MESH:D019694,"Hepatitis B, Chronic","INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.","['Digestive system disease', 'Pathology (process)', 'Viral disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D006526,Hepatitis C,"INFLAMMATION of the LIVER in humans caused by HEPATITIS C VIRUS, a single-stranded RNA virus. Its incubation period is 30-90 days. Hepatitis C is transmitted primarily by contaminated blood parenterally and is often associated with transfusion and intravenous drug abuse. However, in a significant number of cases, the source of hepatitis C infection is unknown.","['Digestive system disease', 'Viral disease']",Xenobiotics
MESH:D019698,"Hepatitis C, Chronic",INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS.,"['Digestive system disease', 'Pathology (process)', 'Viral disease']",Vesicle-mediated transport
MESH:D006521,"Hepatitis, Chronic","INFLAMMATION of the LIVER with ongoing hepatocellular injury for 6 months or more, characterized by NECROSIS of HEPATOCYTES and inflammatory cell (LEUKOCYTES) infiltration. Chronic hepatitis can be caused by viruses, medications, autoimmune diseases, and other unknown factors.","['Digestive system disease', 'Pathology (process)']",Viral myocarditis
MESH:D018197,Hepatoblastoma,"A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed)",['Cancer'],Wnt signaling pathway
MESH:D006527,Hepatolenticular Degeneration,"A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.","['Digestive system disease', 'Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease']",Wnt signaling pathway
MESH:D006529,Hepatomegaly,Enlargement of the liver.,"['Digestive system disease', 'Pathology (anatomical condition)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D006530,Hepatorenal Syndrome,"Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.","['Digestive system disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Transmembrane transport of small molecules
MESH:D056829,Hereditary Angioedema Types I and II,Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.,"['Cardiovascular disease', 'Immune system disease', 'Skin disease']",Systemic lupus erythematosus
MESH:D015417,Hereditary Sensory and Motor Neuropathy,"A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)","['Congenital abnormality', 'Genetic disease (inborn)', 'Nervous system disease']",Viral carcinogenesis
MESH:D006548,"Hernia, Diaphragmatic",Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM.,['Pathology (anatomical condition)'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D065630,"Hernias, Diaphragmatic, Congenital","Protrusion of abdominal structures into the THORAX as a result of embryologic defects in the DIAPHRAGM often present in the neonatal period. It can be isolated, syndromic, non-syndromic or be a part of chromosome abnormality. Associated pulmonary hypoplasia and PULMONARY HYPERTENSION can further complicate stabilization and surgical intervention.","['Congenital abnormality', 'Pathology (anatomical condition)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D006554,"Hernia, Umbilical","A HERNIA due to an imperfect closure or weakness of the umbilical ring. It appears as a skin-covered protrusion at the UMBILICUS during crying, coughing, or straining. The hernia generally consists of OMENTUM or SMALL INTESTINE. The vast majority of umbilical hernias are congenital but can be acquired due to severe abdominal distention.","['Infant-newborn disease', 'Pathology (anatomical condition)']",Transmission across Chemical Synapses
MESH:D006556,Heroin Dependence,"Strong dependence or addiction, both physiological and emotional, upon HEROIN.","['Mental disorder', 'Substance-related disorder']",Type II diabetes mellitus
MESH:D006561,Herpes Simplex,"A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)","['Skin disease', 'Viral disease']",Nectin/Necl  trans heterodimerization
MESH:D006566,Herpesviridae Infections,Virus diseases caused by the HERPESVIRIDAE.,['Viral disease'],Taste transduction
MESH:D017497,Hidradenitis Suppurativa,"A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.","['Bacterial infection or mycosis', 'Skin disease']",Vesicle-mediated transport
MESH:D006620,Hip Fractures,Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES).,['Wounds and injuries'],VEGFR2 mediated cell proliferation
MESH:D006628,Hirsutism,"A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth.","['Signs and symptoms', 'Skin disease']",Signal Transduction
MESH:D039682,HIV-Associated Lipodystrophy Syndrome,"Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors.","['Immune system disease', 'Metabolic disease', 'Skin disease', 'Viral disease']",XBP1(S) activates chaperone genes
MESH:D015658,HIV Infections,"Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS).","['Immune system disease', 'Viral disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D006679,HIV Seropositivity,Development of neutralizing antibodies in individuals who have been exposed to the human immunodeficiency virus (HIV/HTLV-III/LAV).,"['Immune system disease', 'Viral disease']",Vesicle-mediated transport
MESH:D019247,HIV Wasting Syndrome,"Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than HIV infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).","['Immune system disease', 'Metabolic disease', 'Nutrition disorder', 'Viral disease']",Type II diabetes mellitus
MESH:D006689,Hodgkin Disease,"A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen.","['Cancer', 'Immune system disease', 'Lymphatic disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D016142,Holoprosencephaly,"Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.","['Congenital abnormality', 'Genetic disease (inborn)', 'Musculoskeletal disease', 'Nervous system disease']",Transcriptional regulation of pluripotent stem cells
MESH:D006712,Homocystinuria,"Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)","['Connective tissue disease', 'Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease']",Sulfur amino acid metabolism
MESH:D006816,Huntington Disease,"A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)","['Genetic disease (inborn)', 'Mental disorder', 'Nervous system disease']",VEGFR2 mediated cell proliferation
MESH:D006849,Hydrocephalus,"Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.",['Nervous system disease'],Wnt signaling pathway
MESH:D006869,Hydronephrosis,Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.,"['Urogenital disease (female)', 'Urogenital disease (male)']",VEGF signaling pathway
MESH:D006929,Hyperaldosteronism,A condition caused by the overproduction of ALDOSTERONE. It is characterized by sodium retention and potassium excretion with resultant HYPERTENSION and HYPOKALEMIA.,['Endocrine system disease'],Vascular smooth muscle contraction
MESH:D006930,Hyperalgesia,An increased sensation of pain or discomfort produced by minimally noxious stimuli due to damage to soft tissue containing NOCICEPTORS or injury to a peripheral nerve.,"['Nervous system disease', 'Signs and symptoms']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D022124,Hyperammonemia,Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.,['Pathology (process)'],Urea cycle
MESH:D017588,Hyperandrogenism,"A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION.","['Congenital abnormality', 'Endocrine system disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",TGF-beta signaling pathway
MESH:D006932,Hyperbilirubinemia,"A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolized before excretion in the urine.",['Pathology (process)'],Type II diabetes mellitus
MESH:D006934,Hypercalcemia,Abnormally high level of calcium in the blood.,['Metabolic disease'],Vitamins
MESH:D053565,Hypercalciuria,"Excretion of abnormally high level of CALCIUM in the URINE, greater than 4 mg/kg/day.",['Signs and symptoms'],Vitamins
MESH:D006935,Hypercapnia,A clinical manifestation of abnormal increase in the amount of carbon dioxide in arterial blood.,['Signs and symptoms'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D006937,Hypercholesterolemia,A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population.,['Metabolic disease'],VLDLR internalisation and degradation
MESH:D006940,Hyperemia,"The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous).",['Cardiovascular disease'],VEGF signaling pathway
MESH:D017681,Hypereosinophilic Syndrome,"A heterogeneous group of disorders with the common feature of prolonged eosinophilia of unknown cause and associated organ system dysfunction, including the heart, central nervous system, kidneys, lungs, gastrointestinal tract, and skin. There is a massive increase in the number of EOSINOPHILS in the blood, mimicking leukemia, and extensive eosinophilic infiltration of the various organs.",['Blood disease'],VEGFR2 mediated cell proliferation
MESH:D006941,Hyperesthesia,Increased sensitivity to cutaneous stimulation due to a diminished threshold or an increased response to stimuli.,"['Nervous system disease', 'Signs and symptoms']",Signal Transduction
MESH:D006942,Hypergammaglobulinemia,An excess of GAMMA-GLOBULINS in the serum due to chronic infections or PARAPROTEINEMIAS.,"['Blood disease', 'Immune system disease', 'Signs and symptoms']",The role of Nef in HIV-1 replication and disease pathogenesis
MESH:D006943,Hyperglycemia,Abnormally high BLOOD GLUCOSE level.,['Metabolic disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D020158,"Hyperglycinemia, Nonketotic",An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.,"['Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease']",One carbon pool by folate
MESH:D020138,Hyperhomocysteinemia,"Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 μmol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy.","['Genetic disease (inborn)', 'Metabolic disease', 'Nutrition disorder']",Vitamin digestion and absorption
MESH:D006946,Hyperinsulinism,"A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.",['Metabolic disease'],Viral myocarditis
MESH:D006947,Hyperkalemia,"Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed)",['Metabolic disease'],Vesicle-mediated transport
MESH:D006948,Hyperkinesis,"Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.","['Nervous system disease', 'Signs and symptoms']",Vesicle-mediated transport
MESH:D006950,"Hyperlipidemia, Familial Combined","A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.","['Genetic disease (inborn)', 'Metabolic disease']",Visual phototransduction
MESH:D006949,Hyperlipidemias,Conditions with excess LIPIDS in the blood.,['Metabolic disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D006951,Hyperlipoproteinemias,"Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation.",['Metabolic disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D006938,Hyperlipoproteinemia Type II,A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).,"['Genetic disease (inborn)', 'Metabolic disease']",VLDL interactions
MESH:D006952,Hyperlipoproteinemia Type III,"An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.","['Genetic disease (inborn)', 'Metabolic disease']",Visual phototransduction
MESH:D006953,Hyperlipoproteinemia Type IV,"A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits.","['Genetic disease (inborn)', 'Metabolic disease']",Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
MESH:D006954,Hyperlipoproteinemia Type V,"A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I .","['Genetic disease (inborn)', 'Metabolic disease']",Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
MESH:D006955,Hypernatremia,"Excessive amount of sodium in the blood. (Dorland, 27th ed)",['Metabolic disease'],Signal Transduction
MESH:D015576,Hyperostosis,Increase in the mass of bone per unit volume.,['Musculoskeletal disease'],Signal Transduction
MESH:D006958,"Hyperostosis, Cortical, Congenital","A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed)","['Infant-newborn disease', 'Musculoskeletal disease']",Vesicle-mediated transport
MESH:D006959,Hyperoxaluria,Excretion of an excessive amount of OXALATES in the urine.,"['Urogenital disease (female)', 'Urogenital disease (male)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D018496,Hyperoxia,An abnormal increase in the amount of oxygen in the tissues and organs.,['Signs and symptoms'],Xenobiotics
MESH:D006961,Hyperparathyroidism,"A condition of abnormally elevated output of PARATHYROID HORMONE (or PTH) triggering responses that increase blood CALCIUM. It is characterized by HYPERCALCEMIA and BONE RESORPTION, eventually leading to bone diseases. PRIMARY HYPERPARATHYROIDISM is caused by parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. SECONDARY HYPERPARATHYROIDISM is increased PTH secretion in response to HYPOCALCEMIA, usually caused by chronic KIDNEY DISEASES.",['Endocrine system disease'],Wnt signaling pathway
MESH:D006962,"Hyperparathyroidism, Secondary","Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY.",['Endocrine system disease'],Vitamin B2 (riboflavin) metabolism
MESH:D006963,Hyperphagia,Ingestion of a greater than optimal quantity of food.,['Signs and symptoms'],Transcriptional regulation of white adipocyte differentiation
MESH:D054559,Hyperphosphatemia,"A condition of abnormally high level of PHOSPHATES in the blood, usually significantly above the normal range of 0.84-1.58 mmol per liter of serum.",['Metabolic disease'],VEGFR2 mediated cell proliferation
MESH:D017495,Hyperpigmentation,"Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.",['Skin disease'],Xenobiotics
MESH:D006965,Hyperplasia,"An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells.",['Pathology (process)'],Wnt signaling pathway
MESH:D006966,Hyperprolactinemia,"Increased levels of PROLACTIN in the BLOOD, which may be associated with AMENORRHEA and GALACTORRHEA. Relatively common etiologies include PROLACTINOMA, medication effect, KIDNEY FAILURE, granulomatous diseases of the PITUITARY GLAND, and disorders which interfere with the hypothalamic inhibition of prolactin release. Ectopic (non-pituitary) production of prolactin may also occur. (From Joynt, Clinical Neurology, 1992, Ch36, pp77-8)","['Endocrine system disease', 'Nervous system disease']",Type I diabetes mellitus
MESH:D006967,Hypersensitivity,"Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen.",['Immune system disease'],Xenobiotics
MESH:D006968,"Hypersensitivity, Delayed",An increased reactivity to specific antigens mediated not by antibodies but by sensitized T CELLS.,['Immune system disease'],Vesicle-mediated transport
MESH:D006969,"Hypersensitivity, Immediate",Hypersensitivity reactions which occur within minutes of exposure to challenging antigen due to the release of histamine which follows the antigen-antibody reaction and causes smooth muscle contraction and increased vascular permeability.,['Immune system disease'],Ub-specific processing proteases
MESH:D006971,Hypersplenism,"Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy.",['Lymphatic disease'],Type I diabetes mellitus
MESH:D006972,Hypertelorism,Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.,"['Congenital abnormality', 'Musculoskeletal disease']",Ephrin signaling
MESH:D006973,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.",['Cardiovascular disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D006974,"Hypertension, Malignant","A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction.",['Cardiovascular disease'],Steroid hormone biosynthesis
MESH:D006975,"Hypertension, Portal","Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN.",['Digestive system disease'],Vesicle-mediated transport
MESH:D046110,"Hypertension, Pregnancy-Induced","A condition in pregnant women with elevated systolic (>140 mm Hg) and diastolic (>90 mm Hg) blood pressure on at least two occasions 6 h apart. HYPERTENSION complicates 8-10% of all pregnancies, generally after 20 weeks of gestation. Gestational hypertension can be divided into several broad categories according to the complexity and associated symptoms, such as EDEMA; PROTEINURIA; SEIZURES; abnormalities in BLOOD COAGULATION and liver functions.","['Cardiovascular disease', 'Pregnancy complication']",Vesicle-mediated transport
MESH:D006976,"Hypertension, Pulmonary","Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.","['Cardiovascular disease', 'Respiratory tract disease']",Wnt signaling pathway
MESH:D006977,"Hypertension, Renal","Persistent high BLOOD PRESSURE due to KIDNEY DISEASES, such as those involving the renal parenchyma, the renal vasculature, or tumors that secrete RENIN.","['Cardiovascular disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D006978,"Hypertension, Renovascular",Hypertension due to RENAL ARTERY OBSTRUCTION or compression.,"['Cardiovascular disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",VEGF signaling pathway
MESH:D006980,Hyperthyroidism,Hypersecretion of THYROID HORMONES from the THYROID GLAND. Elevated levels of thyroid hormones increase BASAL METABOLIC RATE.,['Endocrine system disease'],Vasopressin regulates renal water homeostasis via Aquaporins
MESH:D006981,Hyperthyroxinemia,Abnormally elevated THYROXINE level in the BLOOD.,['Endocrine system disease'],Thyroxine biosynthesis
MESH:D006983,Hypertrichosis,"Excessive hair growth at inappropriate locations, such as on the extremities, the head, and the back. It is caused by genetic or acquired factors, and is an androgen-independent process. This concept does not include HIRSUTISM which is an androgen-dependent excess hair growth in WOMEN and CHILDREN.",['Skin disease'],"Transport of vitamins, nucleosides, and related molecules"
MESH:D015228,Hypertriglyceridemia,A condition of elevated levels of TRIGLYCERIDES in the blood.,['Metabolic disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D006984,Hypertrophy,"General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA).",['Pathology (anatomical condition)'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D017379,"Hypertrophy, Left Ventricular",Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality.,"['Cardiovascular disease', 'Pathology (anatomical condition)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D017380,"Hypertrophy, Right Ventricular",Enlargement of the RIGHT VENTRICLE of the heart. This increase in ventricular mass is often attributed to PULMONARY HYPERTENSION and is a contributor to cardiovascular morbidity and mortality.,"['Cardiovascular disease', 'Pathology (anatomical condition)']",Vesicle-mediated transport
MESH:D033461,Hyperuricemia,"Excessive URIC ACID or urate in blood as defined by its solubility in plasma at 37 degrees C; greater than 0.42mmol per liter (7.0mg/dL) in men or 0.36mmol per liter (6.0mg/dL) in women. This condition is caused by overproduction of uric acid or impaired renal clearance. Hyperuricemia can be acquired, drug-induced or genetically determined (LESCH-NYHAN SYNDROME). It is associated with HYPERTENSION and GOUT.",['Pathology (process)'],Transport of inorganic cations/anions and amino acids/oligopeptides
MESH:D006985,Hyperventilation,"A pulmonary ventilation rate faster than is metabolically necessary for the exchange of gases. It is the result of an increased frequency of breathing, an increased tidal volume, or a combination of both. It causes an excess intake of oxygen and the blowing off of carbon dioxide.","['Respiratory tract disease', 'Signs and symptoms']",Xenobiotics
MESH:D034141,Hypoalbuminemia,"A condition in which albumin level in blood (SERUM ALBUMIN) is below the normal range. Hypoalbuminemia may be due to decreased hepatic albumin synthesis, increased albumin catabolism, altered albumin distribution, or albumin loss through the urine (ALBUMINURIA).",['Blood disease'],Vesicle-mediated transport
MESH:D006994,Hypoaldosteronism,"A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthesis of Na(+)-K(+)-EXCHANGING ATPASE in renal tubular cells. Clinical symptoms include HYPERKALEMIA, sodium-wasting, HYPOTENSION, and sometimes metabolic ACIDOSIS.",['Endocrine system disease'],Steroid hormone biosynthesis
MESH:D052456,Hypoalphalipoproteinemias,Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS.,"['Genetic disease (inborn)', 'Metabolic disease']",Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
MESH:D006996,Hypocalcemia,"Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed)",['Metabolic disease'],Signal Transduction
MESH:D007003,Hypoglycemia,A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH.,['Metabolic disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D007006,Hypogonadism,"Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).",['Endocrine system disease'],Transport to the Golgi and subsequent modification
MESH:D007008,Hypokalemia,"Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)",['Metabolic disease'],Vesicle-mediated transport
MESH:D020514,Hypokalemic Periodic Paralysis,"An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483)","['Genetic disease (inborn)', 'Metabolic disease', 'Musculoskeletal disease', 'Nervous system disease']",Vascular smooth muscle contraction
MESH:D018476,Hypokinesia,Slow or diminished movement of body musculature. It may be associated with BASAL GANGLIA DISEASES; MENTAL DISORDERS; prolonged inactivity due to illness; and other conditions.,"['Nervous system disease', 'Signs and symptoms']",Zinc transporters
MESH:D007009,Hypolipoproteinemias,"Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins).","['Genetic disease (inborn)', 'Metabolic disease']",Metabolism of lipids and lipoproteins
MESH:D007010,Hyponatremia,"Deficiency of sodium in the blood; salt depletion. (Dorland, 27th ed)",['Metabolic disease'],Vesicle-mediated transport
MESH:D007011,Hypoparathyroidism,"A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.",['Endocrine system disease'],Signal Transduction
MESH:D017674,Hypophosphatemia,A condition of an abnormally low level of PHOSPHATES in the blood.,['Metabolic disease'],Type II Na+/Pi cotransporters
MESH:D017496,Hypopigmentation,"A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.",['Skin disease'],Wnt signaling pathway
MESH:D007018,Hypopituitarism,"Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.","['Endocrine system disease', 'Nervous system disease']",Steroid hormone biosynthesis
MESH:D018636,Hypoplastic Left Heart Syndrome,"A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.","['Cardiovascular disease', 'Congenital abnormality']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D007020,Hypoprothrombinemias,Absence or reduced levels of PROTHROMBIN in the blood.,"['Blood disease', 'Genetic disease (inborn)']",Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
MESH:D007021,Hypospadias,"A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.","['Congenital abnormality', 'Urogenital disease (female)', 'Urogenital disease (male)']",Unfolded Protein Response (UPR)
MESH:D007022,Hypotension,Abnormally low BLOOD PRESSURE that can result in inadequate blood flow to the brain and other vital organs. Common symptom is DIZZINESS but greater negative impacts on the body occur when there is prolonged depravation of oxygen and nutrients.,['Cardiovascular disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D007024,"Hypotension, Orthostatic","A significant drop in BLOOD PRESSURE after assuming a standing position. Orthostatic hypotension is a finding, and defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure 3 minutes after the person has risen from supine to standing. Symptoms generally include DIZZINESS, blurred vision, and SYNCOPE.","['Cardiovascular disease', 'Nervous system disease']",Transmembrane transport of small molecules
MESH:D007035,Hypothermia,"Lower than normal body temperature, especially in warm-blooded animals.",['Signs and symptoms'],VEGFR2 mediated cell proliferation
MESH:D007037,Hypothyroidism,"A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. It may be primary or secondary due to other pituitary disease, or hypothalamic dysfunction.",['Endocrine system disease'],"Transport of vitamins, nucleosides, and related molecules"
MESH:D007039,Hypotrichosis,"Presence of less than the normal amount of hair. (Dorland, 27th ed)",['Skin disease'],Viral mRNA Translation
MESH:D007040,Hypoventilation,A reduction in the amount of air entering the pulmonary alveoli.,"['Respiratory tract disease', 'Signs and symptoms']",XBP1(S) activates chaperone genes
MESH:D000860,Hypoxia,Sub-optimal OXYGEN levels in the ambient air of living organisms.,['Signs and symptoms'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D002534,"Hypoxia, Brain","A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives.","['Nervous system disease', 'Signs and symptoms']",VEGFR2 mediated cell proliferation
MESH:D020925,"Hypoxia-Ischemia, Brain","A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions.","['Cardiovascular disease', 'Nervous system disease', 'Signs and symptoms']",VEGF signaling pathway
MESH:D007057,Ichthyosis,"Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.","['Congenital abnormality', 'Infant-newborn disease', 'Skin disease']",Vesicle-mediated transport
MESH:D016114,"Ichthyosis, X-Linked","Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.","['Congenital abnormality', 'Genetic disease (inborn)', 'Infant-newborn disease', 'Metabolic disease', 'Skin disease']",The activation of arylsulfatases
MESH:D054990,Idiopathic Pulmonary Fibrosis,"A common interstitial lung disease of unknown etiology, usually occurring between 50-70 years of age. Clinically, it is characterized by an insidious onset of breathlessness with exertion and a nonproductive cough, leading to progressive DYSPNEA. Pathological features show scant interstitial inflammation, patchy collagen fibrosis, prominent fibroblast proliferation foci, and microscopic honeycomb change.",['Respiratory tract disease'],Wnt signaling pathway
MESH:D017098,IgA Deficiency,A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A.,"['Blood disease', 'Immune system disease']",Ub-specific processing proteases
MESH:D011695,IgA Vasculitis,"A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections.","['Blood disease', 'Cardiovascular disease', 'Immune system disease', 'Pathology (process)', 'Signs and symptoms', 'Skin disease']",Viral carcinogenesis
MESH:D007079,Ileitis,Inflammation of any segment of the ILEUM and the ILEOCECAL VALVE.,['Digestive system disease'],Tuberculosis
MESH:D007105,Immune Complex Diseases,"Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA.",['Immune system disease'],Type I diabetes mellitus
MESH:D007154,Immune System Diseases,"Disorders caused by abnormal or absent immunologic mechanisms, whether humoral, cell-mediated, or both.",['Immune system disease'],Urea cycle
MESH:D007119,Immunoblastic Lymphadenopathy,"A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly.","['Immune system disease', 'Lymphatic disease']",Wnt signaling pathway
MESH:D007153,Immunologic Deficiency Syndromes,"Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.",['Immune system disease'],Viral carcinogenesis
MESH:D007177,Inappropriate ADH Syndrome,"A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced.","['Endocrine system disease', 'Metabolic disease', 'Nervous system disease']",Vesicle-mediated transport
MESH:D066088,Infant Death,The death of a live-born INFANT within its first year of life.,['Pathology (process)'],TRP channels
MESH:D007232,"Infant, Newborn, Diseases","Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts.",['Infant-newborn disease'],UCH proteinases
MESH:D007235,"Infant, Premature, Diseases",Diseases that occur in PREMATURE INFANTS.,['Infant-newborn disease'],Renin secretion
MESH:D007238,Infarction,"Formation of an infarct, which is NECROSIS in tissue due to local ISCHEMIA resulting from obstruction of BLOOD CIRCULATION, most commonly by a THROMBUS or EMBOLUS.",['Pathology (process)'],Signaling by Interleukins
MESH:D020244,"Infarction, Middle Cerebral Artery","NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.","['Cardiovascular disease', 'Nervous system disease', 'Pathology (process)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D007247,"Infertility, Female",Diminished or absent ability of a female to achieve conception.,['Urogenital disease (female)'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D007248,"Infertility, Male",The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.,['Urogenital disease (male)'],Xenobiotics
MESH:D007249,Inflammation,"A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.",['Pathology (process)'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D015212,Inflammatory Bowel Diseases,"Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS.",['Digestive system disease'],Wnt signaling pathway
MESH:D058922,Inflammatory Breast Neoplasms,Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells.,"['Cancer', 'Skin disease']",Unfolded Protein Response (UPR)
MESH:D007251,"Influenza, Human","An acute viral infection in humans involving the respiratory tract. It is marked by inflammation of the NASAL MUCOSA; the PHARYNX; and conjunctiva, and by headache and severe, often generalized, myalgia.","['Respiratory tract disease', 'Viral disease']",Viral myocarditis
MESH:D007340,Insulinoma,A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.,"['Cancer', 'Digestive system disease', 'Endocrine system disease']",Transcriptional misregulation in cancer
MESH:D007333,Insulin Resistance,Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.,['Metabolic disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D008607,Intellectual Disability,"Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)","['Mental disorder', 'Nervous system disease', 'Signs and symptoms']",Wnt signaling pathway
MESH:D055959,Intervertebral Disc Degeneration,"Degenerative changes in the INTERVERTEBRAL DISC due to aging or structural damage, especially to the vertebral end-plates.",['Musculoskeletal disease'],Vesicle-mediated transport
MESH:D007405,Intervertebral Disc Displacement,An INTERVERTEBRAL DISC in which the NUCLEUS PULPOSUS has protruded through surrounding ANNULUS FIBROSUS. This occurs most frequently in the lower lumbar region.,"['Musculoskeletal disease', 'Pathology (anatomical condition)']",Protein digestion and absorption
MESH:D007410,Intestinal Diseases,Pathological processes in any segment of the INTESTINE from DUODENUM to RECTUM.,['Digestive system disease'],Vasopressin regulates renal water homeostasis via Aquaporins
MESH:D007414,Intestinal Neoplasms,Tumors or cancer of the INTESTINES.,"['Cancer', 'Digestive system disease']",Wnt signaling pathway
MESH:D007415,Intestinal Obstruction,"Any impairment, arrest, or reversal of the normal flow of INTESTINAL CONTENTS toward the ANAL CANAL.",['Digestive system disease'],Transport of inorganic cations/anions and amino acids/oligopeptides
MESH:D007416,Intestinal Perforation,Opening or penetration through the wall of the INTESTINES.,['Digestive system disease'],VEGF signaling pathway
MESH:D044483,Intestinal Polyposis,"The growth of INTESTINAL POLYPS. Growth processes include neoplastic (ADENOMA and CARCINOMA) and non-neoplastic (hyperplastic, mucosal, inflammatory, and other polyps).",['Digestive system disease'],Transcriptional Regulation by TP53
MESH:D007417,Intestinal Polyps,"Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.",['Pathology (anatomical condition)'],Wnt signaling pathway
MESH:D002532,Intracranial Aneurysm,"Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)","['Cardiovascular disease', 'Nervous system disease']",VEGFA-VEGFR2 Pathway
MESH:D002538,Intracranial Arteriovenous Malformations,Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect.,"['Cardiovascular disease', 'Congenital abnormality', 'Nervous system disease']",Viral carcinogenesis
MESH:D002542,Intracranial Embolism and Thrombosis,Embolism or thrombosis involving blood vessels which supply intracranial structures. Emboli may originate from extracranial or intracranial sources. Thrombosis may occur in arterial or venous structures.,"['Cardiovascular disease', 'Nervous system disease']",Transcriptional misregulation in cancer
MESH:D020300,Intracranial Hemorrhages,"Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces.","['Cardiovascular disease', 'Nervous system disease', 'Pathology (process)']",Vitamin digestion and absorption
MESH:D020198,"Intracranial Hemorrhage, Traumatic","Bleeding within the SKULL induced by penetrating and nonpenetrating traumatic injuries, including hemorrhages into the tissues of CEREBRUM; BRAIN STEM; and CEREBELLUM; as well as into the epidural, subdural and subarachnoid spaces of the MENINGES.","['Cardiovascular disease', 'Nervous system disease', 'Wounds and injuries']",Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
MESH:D019586,Intracranial Hypertension,"Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders.",['Nervous system disease'],Transport of inorganic cations/anions and amino acids/oligopeptides
MESH:D020767,Intracranial Thrombosis,Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS.,"['Cardiovascular disease', 'Nervous system disease']",VEGFR2 mediated cell proliferation
MESH:D019189,Iron Metabolism Disorders,"Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)",['Metabolic disease'],Vesicle-mediated transport
MESH:D019190,Iron Overload,"An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)",['Metabolic disease'],Vesicle-mediated transport
MESH:D043183,Irritable Bowel Syndrome,"A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.",['Digestive system disease'],Tuberculosis
MESH:D007511,Ischemia,"A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION.",['Pathology (process)'],Wnt signaling pathway
MESH:D002546,"Ischemic Attack, Transient","Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)","['Cardiovascular disease', 'Nervous system disease']",Viral myocarditis
MESH:D007567,"Jaundice, Neonatal","Yellow discoloration of the SKIN; MUCOUS MEMBRANE; and SCLERA in the NEWBORN. It is a sign of NEONATAL HYPERBILIRUBINEMIA. Most cases are transient self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) occurring in the first week of life, but some can be a sign of pathological disorders, particularly LIVER DISEASES.","['Infant-newborn disease', 'Pathology (process)']",Nuclear Receptor transcription pathway
MESH:D041781,"Jaundice, Obstructive","Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS.","['Pathology (process)', 'Signs and symptoms']",Transmembrane transport of small molecules
MESH:D007569,Jaw Abnormalities,Congenital absence of or defects in structures of the jaw.,"['Congenital abnormality', 'Mouth disease', 'Musculoskeletal disease']",Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
MESH:D007589,Job Syndrome,"Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.","['Blood disease', 'Genetic disease (inborn)', 'Immune system disease']",Viral carcinogenesis
MESH:D007592,Joint Diseases,Diseases involving the JOINTS.,['Musculoskeletal disease'],Response of Mtb to phagocytosis
MESH:D007619,Kartagener Syndrome,"An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.","['Cardiovascular disease', 'Congenital abnormality', 'Ear-nose-throat disease', 'Genetic disease (inborn)', 'Respiratory tract disease']",Huntington's disease
MESH:D007627,Keloid,"A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar (CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues.","['Connective tissue disease', 'Pathology (process)']",XBP1(S) activates chaperone genes
MESH:D007634,Keratitis,Inflammation of the cornea.,['Eye disease'],Vesicle-mediated transport
MESH:D007645,"Keratoderma, Palmoplantar",Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).,"['Genetic disease (inborn)', 'Skin disease']",Vesicle-mediated transport
MESH:D007642,Keratosis,Any horny growth such as a wart or callus.,['Skin disease'],Xenobiotics
MESH:D017492,"Keratosis, Seborrheic","Benign eccrine poromas that present as multiple oval, brown-to-black plaques, located mostly on the chest and back. The age of onset is usually in the fourth or fifth decade.",['Skin disease'],Viral carcinogenesis
MESH:D007647,Kernicterus,"A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)","['Blood disease', 'Immune system disease', 'Infant-newborn disease', 'Metabolic disease', 'Nervous system disease', 'Pathology (process)']",Steroid hormone biosynthesis
MESH:D007669,Kidney Calculi,"Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE.","['Pathology (anatomical condition)', 'Urogenital disease (female)', 'Urogenital disease (male)']",Tryptophan metabolism
MESH:D007674,Kidney Diseases,Pathological processes of the KIDNEY or its component tissues.,"['Urogenital disease (female)', 'Urogenital disease (male)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D052177,"Kidney Diseases, Cystic","A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC).","['Urogenital disease (female)', 'Urogenital disease (male)']",Vesicle-mediated transport
MESH:D007676,"Kidney Failure, Chronic","The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.","['Pathology (process)', 'Urogenital disease (female)', 'Urogenital disease (male)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D007680,Kidney Neoplasms,Tumors or cancers of the KIDNEY.,"['Cancer', 'Urogenital disease (female)', 'Urogenital disease (male)']",Xenobiotics
MESH:D007683,"Kidney Tubular Necrosis, Acute",Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA.,"['Urogenital disease (female)', 'Urogenital disease (male)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D007738,Kyphosis,Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.,['Musculoskeletal disease'],Transport of inorganic cations/anions and amino acids/oligopeptides
MESH:D007805,Language Development Disorders,"Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors.","['Nervous system disease', 'Signs and symptoms']",Voltage gated Potassium channels
MESH:D007806,Language Disorders,Conditions characterized by deficiencies of comprehension or expression of written and spoken forms of language. These include acquired and developmental disorders.,"['Nervous system disease', 'Signs and symptoms']",Signal Transduction
MESH:D007822,Laryngeal Neoplasms,Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS.,"['Cancer', 'Ear-nose-throat disease', 'Respiratory tract disease']",Tyrosine metabolism
MESH:D007835,Lassa Fever,An acute febrile human disease caused by the LASSA VIRUS.,['Viral disease'],Viral myocarditis
MESH:D014854,Lateral Medullary Syndrome,"INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)","['Cardiovascular disease', 'Nervous system disease', 'Pathology (process)']",Signal Transduction
MESH:D007859,Learning Disabilities,"Conditions characterized by a significant discrepancy between an individual's perceived level of intellect and their ability to acquire new language and other cognitive skills. These may result from organic or psychological conditions. Relatively common subtypes include DYSLEXIA, DYSCALCULIA, and DYSGRAPHIA.","['Mental disorder', 'Nervous system disease', 'Signs and symptoms']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D007889,Leiomyoma,"A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues.",['Cancer'],Wnt signaling pathway
MESH:D007890,Leiomyosarcoma,"A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)",['Cancer'],Vpr-mediated nuclear import of PICs
MESH:D007896,Leishmaniasis,"A disease caused by any of a number of species of protozoa in the genus LEISHMANIA. There are four major clinical types of this infection: cutaneous (Old and New World) (LEISHMANIASIS, CUTANEOUS), diffuse cutaneous (LEISHMANIASIS, DIFFUSE CUTANEOUS), mucocutaneous (LEISHMANIASIS, MUCOCUTANEOUS), and visceral (LEISHMANIASIS, VISCERAL).","['Parasitic disease', 'Skin disease']",Urea cycle
MESH:D016773,"Leishmaniasis, Cutaneous","An endemic disease that is characterized by the development of single or multiple localized lesions on exposed areas of skin that typically ulcerate. The disease has been divided into Old and New World forms. Old World leishmaniasis is separated into three distinct types according to epidemiology and clinical manifestations and is caused by species of the L. tropica and L. aethiopica complexes as well as by species of the L. major genus. New World leishmaniasis, also called American leishmaniasis, occurs in South and Central America and is caused by species of the L. mexicana or L. braziliensis complexes.","['Parasitic disease', 'Skin disease']",Unfolded Protein Response (UPR)
MESH:D007897,"Leishmaniasis, Mucocutaneous","A disease characterized by the chronic, progressive spread of lesions from New World cutaneous leishmaniasis caused by species of the L. braziliensis complex to the nasal, pharyngeal, and buccal mucosa some time after the appearance of the initial cutaneous lesion. Nasal obstruction and epistaxis are frequent presenting symptoms.","['Parasitic disease', 'Skin disease']",Type I diabetes mellitus
MESH:D007898,"Leishmaniasis, Visceral","A chronic disease caused by LEISHMANIA DONOVANI and transmitted by the bite of several sandflies of the genera Phlebotomus and Lutzomyia. It is commonly characterized by fever, chills, vomiting, anemia, hepatosplenomegaly, leukopenia, hypergammaglobulinemia, emaciation, and an earth-gray color of the skin. The disease is classified into three main types according to geographic distribution: Indian, Mediterranean (or infantile), and African.",['Parasitic disease'],Viral myocarditis
MESH:D007905,Lens Diseases,Diseases involving the CRYSTALLINE LENS.,['Eye disease'],Ub-specific processing proteases
MESH:D007918,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.",['Bacterial infection or mycosis'],Vesicle-mediated transport
MESH:D053609,Lethargy,"A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION.","['Nervous system disease', 'Signs and symptoms']","Valine, leucine and isoleucine degradation"
MESH:D007938,Leukemia,"A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)",['Cancer'],Wnt signaling pathway
MESH:D004915,"Leukemia, Erythroblastic, Acute",A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood.,"['Blood disease', 'Cancer']","Uridine monophosphate biosynthesis, glutamine (+ PRPP) => UMP"
MESH:D007942,"Leukemia, Experimental","Leukemia induced experimentally in animals by exposure to leukemogenic agents, such as VIRUSES; RADIATION; or by TRANSPLANTATION of leukemic tissues.",['Cancer'],TRIF-mediated TLR3/TLR4 signaling
MESH:D007943,"Leukemia, Hairy Cell","A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of 'hairy' or 'flagellated' cells in the blood and bone marrow.","['Cancer', 'Immune system disease', 'Lymphatic disease']",VEGF signaling pathway
MESH:D054066,"Leukemia, Large Granular Lymphocytic","A spectrum of disorders characterized by clonal expansions of the peripheral blood LYMPHOCYTE populations known as large granular lymphocytes which contain abundant cytoplasm and azurophilic granules. Subtypes develop from either CD3-negative NATURAL KILLER CELLS or CD3-positive T-CELLS. The clinical course of both subtypes can vary from spontaneous regression to progressive, malignant disease.","['Cancer', 'Immune system disease', 'Lymphatic disease']",Viral carcinogenesis
MESH:D015451,"Leukemia, Lymphocytic, Chronic, B-Cell",A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease.,"['Cancer', 'Immune system disease', 'Lymphatic disease', 'Pathology (process)']",Wnt signaling pathway
MESH:D007945,"Leukemia, Lymphoid",Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts.,"['Cancer', 'Immune system disease', 'Lymphatic disease']",Transcriptional misregulation in cancer
MESH:D015459,"Leukemia-Lymphoma, Adult T-Cell","Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa.","['Cancer', 'Immune system disease', 'Lymphatic disease']",Wnt signaling pathway
MESH:D007948,"Leukemia, Monocytic, Acute","An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES.",['Cancer'],Transcriptional misregulation in cancer
MESH:D015464,"Leukemia, Myelogenous, Chronic, BCR-ABL Positive","Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS.","['Blood disease', 'Cancer', 'Pathology (process)']",Viral myocarditis
MESH:D007951,"Leukemia, Myeloid",Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites.,['Cancer'],Viral carcinogenesis
MESH:D015470,"Leukemia, Myeloid, Acute","Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.",['Cancer'],Wnt signaling pathway
MESH:D015479,"Leukemia, Myelomonocytic, Acute",A pediatric acute myeloid leukemia involving both myeloid and monocytoid precursors. At least 20% of non-erythroid cells are of monocytic origin.,['Cancer'],Vascular smooth muscle contraction
MESH:D054429,"Leukemia, Myelomonocytic, Juvenile","A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder.","['Blood disease', 'Cancer']",Wnt signaling pathway
MESH:D015461,"Leukemia, Prolymphocytic, T-Cell","A lymphoid leukemia characterized by a profound LYMPHOCYTOSIS with or without LYMPHADENOPATHY, hepatosplenomegaly, frequently rapid progression, and short survival. It was formerly called T-cell chronic lymphocytic leukemia.","['Cancer', 'Immune system disease', 'Lymphatic disease']",Viral carcinogenesis
MESH:D015473,"Leukemia, Promyelocytic, Acute",An acute myeloid leukemia in which abnormal PROMYELOCYTES predominate. It is frequently associated with DISSEMINATED INTRAVASCULAR COAGULATION.,['Cancer'],Viral myocarditis
MESH:D015458,"Leukemia, T-Cell","A malignant disease of the T-LYMPHOCYTES in the bone marrow, thymus, and/or blood.","['Cancer', 'Immune system disease', 'Lymphatic disease']",Viral carcinogenesis
MESH:D007960,Leukocyte Disorders,Disordered formation of various types of leukocytes or an abnormal accumulation or deficiency of these cells.,['Blood disease'],Viral myocarditis
MESH:D007964,Leukocytosis,A transient increase in the number of leukocytes in a body fluid.,"['Blood disease', 'Pathology (process)']",Wnt signaling pathway
MESH:D056784,Leukoencephalopathies,Any of various diseases affecting the white matter of the central nervous system.,['Nervous system disease'],Wnt signaling pathway
MESH:D007970,Leukopenia,A decrease in the number of LEUKOCYTES in a blood sample below the normal range (LEUKOCYTE COUNT less than 4000).,['Blood disease'],VEGFR2 mediated cell proliferation
MESH:D007972,"Leukoplakia, Oral","A white patch seen on the oral mucosa. It is considered a premalignant condition and is often tobacco-induced. When evidence of Epstein-Barr virus is present, the condition is called hairy leukoplakia (LEUKOPLAKIA, HAIRY).","['Cancer', 'Mouth disease', 'Pathology (anatomical condition)']",VEGF signaling pathway
MESH:D018921,Leukostasis,Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs.,['Blood disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D020961,Lewy Body Disease,"A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present. (From Neurology 1997;48:376-380; Neurology 1996;47:1113-1124)","['Mental disorder', 'Nervous system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D007984,Leydig Cell Tumor,"Gonadal interstitial or stromal cell neoplasm composed of only LEYDIG CELLS. These tumors may produce one or more of the steroid hormones such as ANDROGENS; ESTROGENS; and CORTICOSTEROIDS. Clinical symptoms include testicular swelling, GYNECOMASTIA, sexual precocity in children, or virilization (VIRILISM) in females.","['Cancer', 'Endocrine system disease', 'Urogenital disease (male)']",Transport to the Golgi and subsequent modification
MESH:D017512,Lichenoid Eruptions,"Conditions in which there is histological damage to the lower epidermis along with a grouped chronic inflammatory infiltrate in the papillary dermis disturbing the interface between the epidermis and dermis. LICHEN PLANUS is the prototype of all lichenoid eruptions. (From Rook et al., Textbook of Dermatology, 4th ed, p398)",['Skin disease'],Unfolded Protein Response (UPR)
MESH:D056929,Liddle Syndrome,"Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HYPOKALEMIA; ALKALOSIS; RENIN and ALDOSTERONE level decreases. It is caused by mutations in EPITHELIAL SODIUM CHANNELS beta and gamma subunits. Different mutations in the same EPITHELIAL SODIUM CHANNELS subunits can cause PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT.","['Genetic disease (inborn)', 'Urogenital disease (female)', 'Urogenital disease (male)']",Transmembrane transport of small molecules
MESH:D017880,"Limb Deformities, Congenital",Congenital structural deformities of the upper and lower extremities collectively or unspecified.,"['Congenital abnormality', 'Musculoskeletal disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D052439,Lipid Metabolism Disorders,Pathological conditions resulting from abnormal anabolism or catabolism of lipids in the body.,['Metabolic disease'],Vitamin digestion and absorption
MESH:D008064,Lipidoses,"Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.","['Genetic disease (inborn)', 'Metabolic disease']",XBP1(S) activates chaperone genes
MESH:D008060,Lipodystrophy,"A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy.","['Metabolic disease', 'Skin disease']",Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
MESH:D052496,"Lipodystrophy, Familial Partial","Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.","['Genetic disease (inborn)', 'Metabolic disease', 'Skin disease']",XBP1(S) activates chaperone genes
MESH:D008067,Lipoma,"A benign tumor composed of fat cells (ADIPOCYTES). It can be surrounded by a thin layer of connective tissue (encapsulated), or diffuse without the capsule.",['Cancer'],UCH proteinases
MESH:D008068,Lipomatosis,A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA.,"['Metabolic disease', 'Skin disease']",Ub-specific processing proteases
MESH:D008080,Liposarcoma,"A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)",['Cancer'],Vitamin B5 (pantothenate) metabolism
MESH:D020347,Lithiasis,"A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract.",['Pathology (process)'],Prolactin signaling pathway
MESH:D008103,Liver Cirrhosis,"Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules.","['Digestive system disease', 'Pathology (process)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D008104,"Liver Cirrhosis, Alcoholic",FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING.,"['Digestive system disease', 'Pathology (process)', 'Substance-related disorder']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D008105,"Liver Cirrhosis, Biliary","FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cholangitis involves the destruction of small intra-hepatic bile ducts and decreased bile secretion. Secondary biliary cholangitis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes.","['Digestive system disease', 'Pathology (process)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D008106,"Liver Cirrhosis, Experimental",Experimentally induced chronic injuries to the parenchymal cells in the liver to achieve a model for LIVER CIRRHOSIS.,"['Digestive system disease', 'Pathology (process)']",Zinc transporters
MESH:D008107,Liver Diseases,Pathological processes of the LIVER.,['Digestive system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D008108,"Liver Diseases, Alcoholic","Liver diseases associated with ALCOHOLISM. It usually refers to the coexistence of two or more subentities, i.e., ALCOHOLIC FATTY LIVER; ALCOHOLIC HEPATITIS; and ALCOHOLIC CIRRHOSIS.","['Digestive system disease', 'Substance-related disorder']",Wnt signaling pathway
MESH:D017093,Liver Failure,"Severe inability of the LIVER to perform its normal metabolic functions, as evidenced by severe JAUNDICE and abnormal serum levels of AMMONIA; BILIRUBIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; LACTATE DEHYDROGENASES; and albumin/globulin ratio. (Blakiston's Gould Medical Dictionary, 4th ed)",['Digestive system disease'],VEGF signaling pathway
MESH:D017114,"Liver Failure, Acute","A form of rapid-onset LIVER FAILURE, also known as fulminant hepatic failure, caused by severe liver injury or massive loss of HEPATOCYTES. It is characterized by sudden development of liver dysfunction and JAUNDICE. Acute liver failure may progress to exhibit cerebral dysfunction even HEPATIC COMA depending on the etiology that includes hepatic ISCHEMIA, drug toxicity, malignant infiltration, and viral hepatitis such as post-transfusion HEPATITIS B and HEPATITIS C.",['Digestive system disease'],Wnt signaling pathway
MESH:D008113,Liver Neoplasms,Tumors or cancer of the LIVER.,"['Cancer', 'Digestive system disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D008114,"Liver Neoplasms, Experimental",Experimentally induced tumors of the LIVER.,"['Cancer', 'Digestive system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D008133,Long QT Syndrome,A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.,"['Cardiovascular disease', 'Congenital abnormality', 'Pathology (process)']",Xenobiotics
MESH:D017116,Low Back Pain,"Acute or chronic pain in the lumbar or sacral regions, which may be associated with musculo-ligamentous SPRAINS AND STRAINS; INTERVERTEBRAL DISK DISPLACEMENT; and other conditions.",['Signs and symptoms'],Vesicle-mediated transport
MESH:D057066,Low Tension Glaucoma,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.,['Eye disease'],Transport of inorganic cations/anions and amino acids/oligopeptides
MESH:D008171,Lung Diseases,Pathological processes involving any part of the LUNG.,['Respiratory tract disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D017563,"Lung Diseases, Interstitial","A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.",['Respiratory tract disease'],Vesicle-mediated transport
MESH:D008173,"Lung Diseases, Obstructive","Any disorder marked by obstruction of conducting airways of the lung. AIRWAY OBSTRUCTION may be acute, chronic, intermittent, or persistent.",['Respiratory tract disease'],Transmembrane transport of small molecules
MESH:D055370,Lung Injury,"Damage to any compartment of the lung caused by physical, chemical, or biological agents which characteristically elicit inflammatory reaction. These inflammatory reactions can either be acute and dominated by NEUTROPHILS, or chronic and dominated by LYMPHOCYTES and MACROPHAGES.","['Respiratory tract disease', 'Wounds and injuries']",Xenobiotics
MESH:D008175,Lung Neoplasms,Tumors or cancer of the LUNG.,"['Cancer', 'Respiratory tract disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D008179,"Lupus Erythematosus, Discoid","A chronic form of cutaneous lupus erythematosus (LUPUS ERYTHEMATOSUS, CUTANEOUS) in which the skin lesions mimic those of the systemic form but in which systemic signs are rare. It is characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy. Lesions are surrounded by an elevated erythematous border. The condition typically involves the face and scalp, but widespread dissemination may occur.","['Connective tissue disease', 'Skin disease']",Resolution of Abasic Sites (AP sites)
MESH:D008180,"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.","['Connective tissue disease', 'Immune system disease']",Wnt signaling pathway
MESH:D008181,Lupus Nephritis,"Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982).","['Connective tissue disease', 'Immune system disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Viral carcinogenesis
MESH:D020945,"Lupus Vasculitis, Central Nervous System",Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders.,"['Cardiovascular disease', 'Connective tissue disease', 'Immune system disease', 'Nervous system disease']",Tuberculosis
MESH:D018192,Lymphangioleiomyomatosis,"A disease characterized by the progressive invasion of SMOOTH MUSCLE CELLS into the LYMPHATIC VESSELS, and the BLOOD VESSELS. The majority of the cases occur in the LUNGS of women of child-bearing age, eventually blocking the flow of air, blood, and lymph. The common symptom is shortness of breath (DYSPNEA).","['Cancer', 'Immune system disease', 'Lymphatic disease']",Viral carcinogenesis
MESH:D044148,Lymphatic Abnormalities,Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels.,"['Congenital abnormality', 'Lymphatic disease']",Developmental Biology
MESH:D008207,Lymphatic Metastasis,Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system.,"['Cancer', 'Pathology (process)']",Viral carcinogenesis
MESH:D008209,Lymphedema,Edema due to obstruction of lymph vessels or disorders of the lymph nodes.,['Lymphatic disease'],VEGF ligand-receptor interactions
MESH:D051359,"Lymphohistiocytosis, Hemophagocytic",A group of related disorders characterized by LYMPHOCYTOSIS; HISTIOCYTOSIS; and hemophagocytosis. The two major forms are familial and reactive.,['Lymphatic disease'],Signaling by Interleukins
MESH:D008223,Lymphoma,A general term for various neoplastic diseases of the lymphoid tissue.,"['Cancer', 'Immune system disease', 'Lymphatic disease']",Wnt signaling pathway
MESH:D016483,"Lymphoma, AIDS-Related","B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation.","['Cancer', 'Immune system disease', 'Lymphatic disease']",VEGFR2 mediated cell proliferation
MESH:D016393,"Lymphoma, B-Cell",A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.,"['Cancer', 'Immune system disease', 'Lymphatic disease']",Viral carcinogenesis
MESH:D018442,"Lymphoma, B-Cell, Marginal Zone","Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (MALT) type as a result of an immunologically mediated disorder.","['Cancer', 'Immune system disease', 'Lymphatic disease']",Tuberculosis
MESH:D054391,"Lymphoma, Extranodal NK-T-Cell","An extranodal neoplasm, usually possessing an NK-cell phenotype and associated with EPSTEIN-BARR VIRUS. These lymphomas exhibit a broad morphologic spectrum, frequent necrosis, angioinvasion, and most commonly present in the midfacial region, but also in other extranodal sites.",['Cancer'],Viral carcinogenesis
MESH:D008224,"Lymphoma, Follicular",Malignant lymphoma in which the lymphomatous cells are clustered into identifiable nodules within the LYMPH NODES. The nodules resemble to some extent the GERMINAL CENTER of lymph node follicles and most likely represent neoplastic proliferation of lymph node-derived follicular center B-LYMPHOCYTES.,"['Cancer', 'Immune system disease', 'Lymphatic disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D016403,"Lymphoma, Large B-Cell, Diffuse","Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation.","['Cancer', 'Immune system disease', 'Lymphatic disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D017728,"Lymphoma, Large-Cell, Anaplastic","A systemic, large-cell, non-Hodgkin, malignant lymphoma characterized by cells with pleomorphic appearance and expressing the CD30 ANTIGEN. These so-called 'hallmark' cells have lobulated and indented nuclei. This lymphoma is often mistaken for metastatic carcinoma and MALIGNANT HISTIOCYTOSIS.","['Cancer', 'Immune system disease', 'Lymphatic disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D020522,"Lymphoma, Mantle-Cell","A form of non-Hodgkin lymphoma having a usually diffuse pattern with both small and medium lymphocytes and small cleaved cells. It accounts for about 5% of adult non-Hodgkin lymphomas in the United States and Europe. The majority of mantle-cell lymphomas are associated with a t(11;14) translocation resulting in overexpression of the CYCLIN D1 gene (GENES, BCL-1).","['Cancer', 'Immune system disease', 'Lymphatic disease']",Wnt signaling pathway
MESH:D008228,"Lymphoma, Non-Hodgkin","Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease.","['Cancer', 'Immune system disease', 'Lymphatic disease']",Xenobiotics
MESH:D016399,"Lymphoma, T-Cell",A group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes.,"['Cancer', 'Immune system disease', 'Lymphatic disease']",Wnt signaling pathway
MESH:D016410,"Lymphoma, T-Cell, Cutaneous",A group of lymphomas exhibiting clonal expansion of malignant T-lymphocytes arrested at varying stages of differentiation as well as malignant infiltration of the skin. MYCOSIS FUNGOIDES; SEZARY SYNDROME; LYMPHOMATOID PAPULOSIS; and PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA are the best characterized of these disorders.,"['Cancer', 'Immune system disease', 'Lymphatic disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D016411,"Lymphoma, T-Cell, Peripheral","A group of malignant lymphomas thought to derive from peripheral T-lymphocytes in lymph nodes and other nonlymphoid sites. They include a broad spectrum of lymphocyte morphology, but in all instances express T-cell markers admixed with epithelioid histiocytes, plasma cells, and eosinophils. Although markedly similar to large-cell immunoblastic lymphoma (LYMPHOMA, LARGE-CELL, IMMUNOBLASTIC), this group's unique features warrant separate treatment.","['Cancer', 'Immune system disease', 'Lymphatic disease']",Wnt signaling pathway
MESH:D008231,Lymphopenia,Reduction in the number of lymphocytes.,"['Blood disease', 'Immune system disease']",Vpr-mediated nuclear import of PICs
MESH:D008232,Lymphoproliferative Disorders,"Disorders characterized by proliferation of lymphoid tissue, general or unspecified.","['Immune system disease', 'Lymphatic disease']",Ubiquitin mediated proteolysis
MESH:D008268,Macular Degeneration,Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.,['Eye disease'],Visual phototransduction
MESH:D008269,Macular Edema,"Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90)",['Eye disease'],VEGF signaling pathway
MESH:D008275,Magnesium Deficiency,"A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)",['Nutrition disorder'],Transmembrane transport of small molecules
MESH:D008286,Malabsorption Syndromes,General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.,"['Digestive system disease', 'Metabolic disease']",Vitamin digestion and absorption
MESH:D008288,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.",['Parasitic disease'],Viral myocarditis
MESH:D016778,"Malaria, Falciparum","Malaria caused by PLASMODIUM FALCIPARUM. This is the severest form of malaria and is associated with the highest levels of parasites in the blood. This disease is characterized by irregularly recurring febrile paroxysms that in extreme cases occur with acute cerebral, renal, or gastrointestinal manifestations.",['Parasitic disease'],Vesicle-mediated transport
MESH:D054220,Malformations of Cortical Development,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.,"['Congenital abnormality', 'Nervous system disease']",Viral carcinogenesis
MESH:D008305,Malignant Hyperthermia,Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia.,"['Pathology (process)', 'Signs and symptoms']",Transmembrane transport of small molecules
MESH:D044342,Malnutrition,An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement.,['Nutrition disorder'],Sulfur amino acid metabolism
MESH:D015674,"Mammary Neoplasms, Animal","Tumors or cancer of the MAMMARY GLAND in animals (MAMMARY GLANDS, ANIMAL).","['Animal disease', 'Cancer']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D008325,"Mammary Neoplasms, Experimental",Experimentally induced mammary neoplasms in animals to provide a model for studying human BREAST NEOPLASMS.,['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D020149,Manganese Poisoning,"Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)",['Nervous system disease'],Zinc transporters
MESH:D008382,Marfan Syndrome,"An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue.  Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.","['Cardiovascular disease', 'Congenital abnormality', 'Connective tissue disease', 'Genetic disease (inborn)', 'Musculoskeletal disease']",UCH proteinases
MESH:D002189,Marijuana Abuse,"Use of marijuana associated with abnormal psychological, social, and or occupational functioning.","['Mental disorder', 'Substance-related disorder']",Wnt signaling pathway
MESH:D047508,Massive Hepatic Necrosis,"Extensive and rapid death of parenchymal cells in the LIVER, often due to exposure to toxic materials or drug-induced injury. It is characterized by a soft, flabby, yellow-brown wrinkled, and shrunken liver. It was called 'acute yellow atrophy'.",['Digestive system disease'],Transmission across Electrical Synapses
MESH:D008413,Mastitis,"INFLAMMATION of the BREAST, or MAMMARY GLAND.","['Pregnancy complication', 'Skin disease']",Signal Transduction
MESH:D008415,Mastocytosis,"A rare neoplastic disorder characterized by a clonal proliferation of MAST CELLS, associated with KIT-D816 mutations, and accompanied by aberrant mast cell activation. The abnormal increase of MAST CELLS may occur in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA).","['Cancer', 'Immune system disease']",VEGFR2 mediated cell proliferation
MESH:D034721,"Mastocytosis, Systemic","A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis.","['Cancer', 'Immune system disease']",VEGFR2 mediated cell proliferation
MESH:D008439,Maxillary Diseases,Diseases involving the MAXILLA.,"['Mouth disease', 'Musculoskeletal disease']",Signaling by Interleukins
MESH:D019767,Maxillofacial Abnormalities,"Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.","['Congenital abnormality', 'Mouth disease', 'Musculoskeletal disease']",One carbon pool by folate
MESH:D008527,Medulloblastoma,"A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)",['Cancer'],Wnt signaling pathway
MESH:D008545,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)",['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D018328,"Melanoma, Amelanotic","An unpigmented malignant melanoma. It is an anaplastic melanoma consisting of cells derived from melanoblasts but not forming melanin. (Dorland, 27th ed; Stedman, 25th ed)",['Cancer'],Tuberculosis
MESH:D008546,"Melanoma, Experimental",Experimentally induced tumor that produces MELANIN in animals to provide a model for studying human MELANOMA.,['Cancer'],Virus Assembly and Release
MESH:D008548,Melanosis,Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.,['Skin disease'],"Valine, leucine and isoleucine degradation"
MESH:D017241,MELAS Syndrome,"A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)","['Cardiovascular disease', 'Genetic disease (inborn)', 'Metabolic disease', 'Musculoskeletal disease', 'Nervous system disease']",Type I diabetes mellitus
MESH:D008569,Memory Disorders,"Disturbances in registering an impression, in the retention of an acquired impression, or in the recall of an impression. Memory impairments are associated with DEMENTIA; CRANIOCEREBRAL TRAUMA; ENCEPHALITIS; ALCOHOLISM (see also ALCOHOL AMNESTIC DISORDER); SCHIZOPHRENIA; and other conditions.","['Nervous system disease', 'Signs and symptoms']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D008579,Meningioma,"A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2056-7)","['Cancer', 'Nervous system disease']",Vesicle-mediated transport
MESH:D008580,Meningism,"A condition characterized by neck stiffness, headache, and other symptoms suggestive of meningeal irritation, but without actual inflammation of the meninges (MENINGITIS). Spinal fluid pressure may be elevated but spinal fluid is normal. (DeJong, The Neurologic Examination, 4th ed, p673)","['Nervous system disease', 'Signs and symptoms']",Tuberculosis
MESH:D008581,Meningitis,"Inflammation of the coverings of the brain and/or spinal cord, which consist of the PIA MATER; ARACHNOID; and DURA MATER. Infections (viral, bacterial, and fungal) are the most common causes of this condition, but subarachnoid hemorrhage (HEMORRHAGES, SUBARACHNOID), chemical irritation (chemical MENINGITIS), granulomatous conditions, neoplastic conditions (CARCINOMATOUS MENINGITIS), and other inflammatory conditions may produce this syndrome. (From Joynt, Clinical Neurology, 1994, Ch24, p6)",['Nervous system disease'],Terminal pathway of complement
MESH:D008582,"Meningitis, Aseptic","A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)",['Nervous system disease'],Vesicle-mediated transport
MESH:D008585,"Meningitis, Meningococcal","A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)","['Bacterial infection or mycosis', 'Nervous system disease']","Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds"
MESH:D008589,Meningococcal Infections,Infections with bacteria of the species NEISSERIA MENINGITIDIS.,['Bacterial infection or mycosis'],Staphylococcus aureus infection
MESH:D008590,Meningoencephalitis,"An inflammatory process involving the brain (ENCEPHALITIS) and meninges (MENINGITIS), most often produced by pathogenic organisms which invade the central nervous system, and occasionally by toxins, autoimmune disorders, and other conditions.",['Nervous system disease'],Transcriptional misregulation in cancer
MESH:D008591,Meningomyelocele,"Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)","['Congenital abnormality', 'Nervous system disease']",Signal Transduction
MESH:D007706,Menkes Kinky Hair Syndrome,"An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)","['Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease', 'Skin disease']","Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds"
MESH:D001523,Mental Disorders,"Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function.",['Mental disorder'],Vesicle-mediated transport
MESH:D020262,"Mercury Poisoning, Nervous System","Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)",['Nervous system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D065666,Mesenteric Ischemia,"Ischemic tissue injury produced by insufficient perfusion of intestinal tissue by the MESENTERIC CIRCULATION (i.e., CELIAC ARTERY; SUPERIOR MESENTERIC ARTERY; INFERERIOR MESENTERIC ARTERY; and MESENTERIC VEINS). It can progress from ISCHEMIA; EDEMA; and GANGRENE of the bowel wall to PERITONITIS and cardiovascular collapse.","['Cardiovascular disease', 'Digestive system disease']",Vesicle-mediated transport
MESH:D008641,Mesenteric Vascular Occlusion,"Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)","['Cardiovascular disease', 'Digestive system disease']",VEGFR2 mediated cell proliferation
MESH:D008654,Mesothelioma,"A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)",['Cancer'],Wnt signaling pathway
MESH:D008659,Metabolic Diseases,"Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)",['Metabolic disease'],Xenobiotics
MESH:D024821,Metabolic Syndrome,A cluster of symptoms that are risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome include ABDOMINAL OBESITY; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state.,['Metabolic disease'],Vpr-mediated nuclear import of PICs
MESH:D008661,"Metabolism, Inborn Errors",Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.,"['Genetic disease (inborn)', 'Metabolic disease']",Vitamin C (ascorbate) metabolism
MESH:D008679,Metaplasia,A condition in which there is a change of one adult cell type to another similar adult cell type.,['Pathology (process)'],Vesicle-mediated transport
MESH:D008708,Methemoglobinemia,"The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)",['Blood disease'],Xenobiotics
MESH:D054078,Mevalonate Kinase Deficiency,"Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.","['Blood disease', 'Genetic disease (inborn)', 'Immune system disease', 'Metabolic disease', 'Nervous system disease']",Terpenoid backbone biosynthesis
MESH:D008831,Microcephaly,"A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)","['Congenital abnormality', 'Musculoskeletal disease', 'Nervous system disease']",Vitamin C (ascorbate) metabolism
MESH:D048629,"Micronuclei, Chromosome-Defective",Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes.,['Pathology (process)'],Xenobiotics
MESH:D008850,Microphthalmos,Congenital or developmental anomaly in which the eyeballs are abnormally small.,"['Congenital abnormality', 'Eye disease']",Visual phototransduction
MESH:D017566,Microvascular Angina,"ANGINA PECTORIS or angina-like chest pain with a normal coronary arteriogram and positive EXERCISE TEST. The cause of the syndrome is unknown. While its recognition is of clinical importance, its prognosis is excellent. (Braunwald, Heart Disease, 4th ed, p1346; Jablonski Dictionary of Syndromes & Eponymic Diseases, 2d ed). It is different from METABOLIC SYNDROME X, a syndrome characterized by INSULIN RESISTANCE and HYPERINSULINEMIA, that has increased risk for cardiovascular disease.",['Cardiovascular disease'],One carbon pool by folate
MESH:D008881,Migraine Disorders,"A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)",['Nervous system disease'],Visual phototransduction
MESH:D020325,Migraine with Aura,"A subtype of migraine disorder, characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred VISION; HALLUCINATIONS; VERTIGO; NUMBNESS; and difficulty in concentrating and speaking. Aura is usually followed by features of the COMMON MIGRAINE, such as PHOTOPHOBIA; PHONOPHOBIA; and NAUSEA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)",['Nervous system disease'],Type II diabetes mellitus
MESH:D020326,Migraine without Aura,"Recurrent unilateral pulsatile headaches, not preceded or accompanied by an aura, in attacks lasting 4-72 hours. It is characterized by PAIN of moderate to severe intensity; aggravated by physical activity; and associated with NAUSEA and / or PHOTOPHOBIA and PHONOPHOBIA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)",['Nervous system disease'],Visual phototransduction
MESH:D015877,Miosis,"Pupillary constriction. This may result from congenital absence of the dilatator pupillary muscle, defective sympathetic innervation, or irritation of the CONJUNCTIVA or CORNEA.","['Eye disease', 'Nervous system disease', 'Signs and symptoms']",Signal Transduction
MESH:D008924,Mite Infestations,"Infestations with arthropods of the subclass ACARI, superorder Acariformes.",['Parasitic disease'],Tuberculosis
MESH:D028361,Mitochondrial Diseases,"Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.",['Metabolic disease'],Wnt signaling pathway
MESH:D017240,Mitochondrial Myopathies,A group of muscle diseases associated with abnormal mitochondria function.,"['Metabolic disease', 'Musculoskeletal disease', 'Nervous system disease']",Visual phototransduction
MESH:D008944,Mitral Valve Insufficiency,Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation.,['Cardiovascular disease'],Surfactant metabolism
MESH:D018200,"Mixed Tumor, Mullerian","A tumor, basically a carcinoma with a single sarcoma such as leiomyosarcoma or angiosarcoma or multiple sarcomas of uterine origin. The role of estrogen has been postulated as a possible etiological factor in this tumor. (Holland et al., Cancer Medicine, 3d ed, p1703)",['Cancer'],Transcriptional misregulation in cancer
MESH:D019964,Mood Disorders,Those disorders that have a disturbance in mood as their predominant feature.,['Mental disorder'],XBP1(S) activates chaperone genes
MESH:D009021,Morphine Dependence,"Strong dependence, both physiological and emotional, upon morphine.","['Mental disorder', 'Substance-related disorder']",Viral carcinogenesis
MESH:D000068079,Motor Disorders,Motor skills deficits that significantly and persistently interfere with ACTIVITIES OF DAILY LIVING appropriate to chronological age.  (from DSM-5),['Mental disorder'],Signal Transduction
MESH:D016472,Motor Neuron Disease,"Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)",['Nervous system disease'],Striated Muscle Contraction
MESH:D019957,Motor Skills Disorders,Marked impairments in the development of motor coordination such that the impairment interferes with activities of daily living. (From DSM-V),['Mental disorder'],Visual phototransduction
MESH:D009056,Mouth Abnormalities,Congenital absence of or defects in structures of the mouth.,"['Congenital abnormality', 'Mouth disease']",Signal Transduction
MESH:D009059,Mouth Diseases,Diseases involving the MOUTH.,['Mouth disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D009062,Mouth Neoplasms,Tumors or cancer of the MOUTH.,"['Cancer', 'Mouth disease']",Wnt signaling pathway
MESH:D009069,Movement Disorders,"Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.",['Nervous system disease'],Vibrio cholerae infection
MESH:D020267,MPTP Poisoning,"A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)",['Nervous system disease'],Vesicle-mediated transport
MESH:D009080,Mucocutaneous Lymph Node Syndrome,"An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities.","['Cardiovascular disease', 'Lymphatic disease', 'Skin disease']",Viral myocarditis
MESH:D009084,Mucopolysaccharidosis III,"Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.","['Connective tissue disease', 'Genetic disease (inborn)', 'Metabolic disease']",Vesicle-mediated transport
MESH:D052016,Mucositis,"An INFLAMMATION of the MUCOSA with burning or tingling sensation. It is characterized by atrophy of the squamous EPITHELIUM, vascular damage, inflammatory infiltration, and ulceration. It usually occurs at the mucous lining of the MOUTH, the GASTROINTESTINAL TRACT or the airway due to chemical irritations, CHEMOTHERAPY, or radiation therapy (RADIOTHERAPY).","['Digestive system disease', 'Mouth disease']",Vesicle-mediated transport
MESH:D018777,Multiple Chemical Sensitivity,"An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen MR. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61)","['Environmental origin disorders', 'Immune system disease']",Peroxisome
MESH:D009377,Multiple Endocrine Neoplasia,"A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively.","['Cancer', 'Endocrine system disease', 'Genetic disease (inborn)']",VEGFR2 mediated cell proliferation
MESH:D009101,Multiple Myeloma,"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.","['Blood disease', 'Cancer', 'Cardiovascular disease', 'Immune system disease']",Wnt signaling pathway
MESH:D009102,Multiple Organ Failure,"A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative.",['Pathology (process)'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D009103,Multiple Sclerosis,"An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)","['Immune system disease', 'Nervous system disease']",XBP1(S) activates chaperone genes
MESH:D020529,"Multiple Sclerosis, Relapsing-Remitting","The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)","['Immune system disease', 'Nervous system disease']",Visual phototransduction
MESH:D019578,Multiple System Atrophy,"A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)",['Nervous system disease'],"Ubiquinone biosynthesis, eukaryotes, 4-hydroxybenzoate => ubiquinone"
MESH:D009122,Muscle Hypertonia,Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES.,"['Nervous system disease', 'Signs and symptoms']",Vasopressin-like receptors
MESH:D009123,Muscle Hypotonia,A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.,"['Nervous system disease', 'Signs and symptoms']","Valine, leucine and isoleucine degradation"
MESH:D009127,Muscle Rigidity,"Continuous involuntary sustained muscle contraction which is often a manifestation of BASAL GANGLIA DISEASES. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from MUSCLE SPASTICITY. (From Adams et al., Principles of Neurology, 6th ed, p73)","['Musculoskeletal disease', 'Nervous system disease', 'Signs and symptoms']",Xenobiotics
MESH:D009128,Muscle Spasticity,"A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a 'free interval') followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)","['Musculoskeletal disease', 'Nervous system disease', 'Signs and symptoms']",Signal Transduction
MESH:D018908,Muscle Weakness,"A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)","['Musculoskeletal disease', 'Nervous system disease', 'Pathology (process)', 'Signs and symptoms']",Visual phototransduction
MESH:D009133,Muscular Atrophy,"Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.","['Nervous system disease', 'Pathology (anatomical condition)', 'Signs and symptoms']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D009134,"Muscular Atrophy, Spinal","A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)",['Nervous system disease'],TRP channels
MESH:D009135,Muscular Diseases,"Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.","['Musculoskeletal disease', 'Nervous system disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D009136,Muscular Dystrophies,"A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.","['Genetic disease (inborn)', 'Musculoskeletal disease', 'Nervous system disease']",Viral myocarditis
MESH:D009137,"Muscular Dystrophy, Animal",MUSCULAR DYSTROPHY that occurs in VERTEBRATE animals.,['Animal disease'],Viral myocarditis
MESH:D020388,"Muscular Dystrophy, Duchenne","An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)","['Genetic disease (inborn)', 'Musculoskeletal disease', 'Nervous system disease']",Vpu mediated degradation of CD4
MESH:D009139,Musculoskeletal Abnormalities,Congenital structural abnormalities and deformities of the musculoskeletal system.,"['Congenital abnormality', 'Musculoskeletal disease']",Viral myocarditis
MESH:D059352,Musculoskeletal Pain,"Discomfort stemming from muscles, LIGAMENTS, tendons, and bones.","['Musculoskeletal disease', 'Signs and symptoms']",Tyrosine metabolism
MESH:D009157,Myasthenia Gravis,"A disorder of neuromuscular transmission characterized by fatigable weakness of cranial and skeletal muscles with elevated titers of ACETYLCHOLINE RECEPTORS or muscle-specific receptor tyrosine kinase (MuSK) autoantibodies. Clinical manifestations may include ocular muscle weakness (fluctuating, asymmetric, external ophthalmoplegia; diplopia; ptosis; and weakness of eye closure) and extraocular fatigable weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles (ocular myasthenia). THYMOMA is commonly associated with this condition.","['Cancer', 'Immune system disease', 'Nervous system disease']",Viral myocarditis
MESH:D020294,"Myasthenic Syndromes, Congenital","A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)","['Genetic disease (inborn)', 'Nervous system disease']",XBP1(S) activates chaperone genes
MESH:D009164,Mycobacterium Infections,Infections with bacteria of the genus MYCOBACTERIUM.,['Bacterial infection or mycosis'],Tuberculosis
MESH:D009165,"Mycobacterium Infections, Nontuberculous","Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see MYCOBACTERIUM AVIUM COMPLEX;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae, M. leprae.",['Bacterial infection or mycosis'],Tuberculosis
MESH:D009175,Mycoplasma Infections,Infections with species of the genus MYCOPLASMA.,['Bacterial infection or mycosis'],Viral myocarditis
MESH:D009182,Mycosis Fungoides,"A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected.","['Cancer', 'Immune system disease', 'Lymphatic disease']",TNF signaling pathway
MESH:D009190,Myelodysplastic Syndromes,"Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.",['Blood disease'],Wnt signaling pathway
MESH:D009196,Myeloproliferative Disorders,"Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE.",['Blood disease'],Wnt signaling pathway
MESH:D009203,Myocardial Infarction,NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).,"['Cardiovascular disease', 'Pathology (process)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D017202,Myocardial Ischemia,"A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION).",['Cardiovascular disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D015428,Myocardial Reperfusion Injury,"Damage to the MYOCARDIUM resulting from MYOCARDIAL REPERFUSION (restoration of blood flow to ischemic areas of the HEART.) Reperfusion takes place when there is spontaneous thrombolysis, THROMBOLYTIC THERAPY, collateral flow from other coronary vascular beds, or reversal of vasospasm.","['Cardiovascular disease', 'Pathology (process)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D017682,Myocardial Stunning,"Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.","['Cardiovascular disease', 'Signs and symptoms']",Type II diabetes mellitus
MESH:D009205,Myocarditis,"Inflammatory processes of the muscular walls of the heart (MYOCARDIUM) which result in injury to the cardiac muscle cells (MYOCYTES, CARDIAC). Manifestations range from subclinical to sudden death (DEATH, SUDDEN). Myocarditis in association with cardiac dysfunction is classified as inflammatory CARDIOMYOPATHY usually caused by INFECTION, autoimmune diseases, or responses to toxic substances. Myocarditis is also a common cause of DILATED CARDIOMYOPATHY and other cardiomyopathies.",['Cardiovascular disease'],Type II diabetes mellitus
MESH:D020191,"Myoclonic Epilepsies, Progressive","A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.",['Nervous system disease'],XBP1(S) activates chaperone genes
MESH:D020190,"Myoclonic Epilepsy, Juvenile","A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)",['Nervous system disease'],Transmission across Chemical Synapses
MESH:D009212,Myoglobinuria,The presence of MYOGLOBIN in URINE usually as a result of rhabdomyolysis.,['Musculoskeletal disease'],The citric acid (TCA) cycle and respiratory electron transport
MESH:D009216,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.",['Eye disease'],Voltage gated Potassium channels
MESH:D009220,Myositis,Inflammation of a muscle or muscle tissue.,"['Musculoskeletal disease', 'Nervous system disease']",tRNA Aminoacylation
MESH:D018979,"Myositis, Inclusion Body","Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. Sporadic and hereditary forms have been described. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial forms usually begin in childhood and lack inflammatory changes. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. (Adams et al., Principles of Neurology, 6th ed, pp1409-10)","['Musculoskeletal disease', 'Nervous system disease']",Synthesis of substrates in N-glycan biosythesis
MESH:D009222,Myotonia,"Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS.","['Nervous system disease', 'Signs and symptoms']",Phase 0 - rapid depolarisation
MESH:D009224,Myotonia Congenita,Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.,"['Genetic disease (inborn)', 'Musculoskeletal disease', 'Nervous system disease']",Transmembrane transport of small molecules
MESH:D020967,Myotonic Disorders,"Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.","['Musculoskeletal disease', 'Nervous system disease']",Phase 0 - rapid depolarisation
MESH:D009223,Myotonic Dystrophy,"Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.","['Genetic disease (inborn)', 'Musculoskeletal disease', 'Nervous system disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D009260,Nail Diseases,Diseases of the nail plate and tissues surrounding it. The concept is limited to primates.,['Skin disease'],Type I hemidesmosome assembly
MESH:D009290,Narcolepsy,"A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)","['Mental disorder', 'Nervous system disease']",Viral myocarditis
MESH:D015508,Nasal Obstruction,"Any hindrance to the passage of air into and out of the nose. The obstruction may be unilateral or bilateral, and may involve any part of the NASAL CAVITY.","['Ear-nose-throat disease', 'Respiratory tract disease']",Signal Transduction
MESH:D009298,Nasal Polyps,"Focal accumulations of EDEMA fluid in the NASAL MUCOSA accompanied by HYPERPLASIA of the associated submucosal connective tissue. Polyps may be NEOPLASMS, foci of INFLAMMATION, degenerative lesions, or malformations.","['Ear-nose-throat disease', 'Pathology (anatomical condition)', 'Respiratory tract disease']",VEGFR2 mediated cell proliferation
MESH:D000077274,Nasopharyngeal Carcinoma,"A carcinoma that originates in the EPITHELIUM of the NASOPHARYNX and includes four subtypes: keratinizing squamous cell, non-keratinizing, basaloid squamous cell, and PAPILLARY ADENOCARCINOMA. It is most prevalent in Southeast Asian populations and is associated with EPSTEIN-BARR VIRUS INFECTIONS. Somatic mutations associated with this cancer have been identified in NPCR, BAP1, UBAP1, ERBB2, ERBB3, MLL2, PIK3CA, KRAS, NRAS, and ARID1A genes.","['Cancer', 'Ear-nose-throat disease', 'Mouth disease']",Wnt signaling pathway
MESH:D009303,Nasopharyngeal Neoplasms,Tumors or cancer of the NASOPHARYNX.,"['Cancer', 'Ear-nose-throat disease', 'Mouth disease']",Xenobiotics
MESH:D009325,Nausea,"An unpleasant sensation in the stomach usually accompanied by the urge to vomit. Common causes are early pregnancy, sea and motion sickness, emotional stress, intense pain, food poisoning, and various enteroviruses.",['Signs and symptoms'],Type II diabetes mellitus
MESH:D009336,Necrosis,"The death of cells in an organ or tissue due to disease, injury or failure of the blood supply.",['Pathology (process)'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D016870,Neisseriaceae Infections,Infections with bacteria of the family NEISSERIACEAE.,['Bacterial infection or mycosis'],Terminal pathway of complement
MESH:D058426,Neointima,"The new and thickened layer of scar tissue that forms on a PROSTHESIS, or as a result of vessel injury especially following ANGIOPLASTY or stent placement.",['Pathology (process)'],Transmembrane transport of small molecules
MESH:D009361,Neoplasm Invasiveness,Ability of neoplasms to infiltrate and actively destroy surrounding tissue.,"['Cancer', 'Pathology (process)']",Zinc transporters
MESH:D009362,Neoplasm Metastasis,The transfer of a neoplasm from one organ or part of the body to another remote from the primary site.,"['Cancer', 'Pathology (process)']",Zinc transporters
MESH:D009364,"Neoplasm Recurrence, Local",The local recurrence of a neoplasm following treatment. It arises from microscopic cells of the original neoplasm that have escaped therapeutic intervention and later become clinically visible at the original site.,"['Cancer', 'Pathology (process)']",Wnt signaling pathway
MESH:D009369,Neoplasms,"New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.",['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D018213,"Neoplasms, Bone Tissue","Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones.",['Cancer'],Taste transduction
MESH:D009374,"Neoplasms, Experimental",Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms.,['Cancer'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D009373,"Neoplasms, Germ Cell and Embryonal","Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS.",['Cancer'],Vitamin C (ascorbate) metabolism
MESH:D009375,"Neoplasms, Glandular and Epithelial","Neoplasms composed of glandular tissue, an aggregation of epithelial cells that elaborate secretions, and of any type of epithelium itself. The concept does not refer to neoplasms located in the various glands or in epithelial tissue.",['Cancer'],Signal Transduction
MESH:D009376,"Neoplasms, Hormone-Dependent","Certain tumors that 1, arise in organs that are normally dependent on specific hormones and 2, are stimulated or caused to regress by manipulation of the endocrine environment.",['Cancer'],Visual phototransduction
MESH:D009381,"Neoplasms, Radiation-Induced","Tumors, cancer or other neoplasms produced by exposure to ionizing or non-ionizing radiation.","['Cancer', 'Wounds and injuries']",Transcriptional regulation of white adipocyte differentiation
MESH:D016609,"Neoplasms, Second Primary",Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause.,['Cancer'],Ubiquitin mediated proteolysis
MESH:D018307,"Neoplasms, Squamous Cell",Neoplasms of the SQUAMOUS EPITHELIAL CELLS. The concept does not refer to neoplasms located in tissue composed of squamous elements.,['Cancer'],Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
MESH:D009385,Neoplastic Processes,The pathological mechanisms and forms taken by tissue during degeneration into a neoplasm and its subsequent activity.,"['Cancer', 'Pathology (process)']",Viral carcinogenesis
MESH:D009389,"Neovascularization, Pathologic",A pathologic process consisting of the proliferation of blood vessels in abnormal tissues or in abnormal positions.,['Pathology (process)'],VEGF signaling pathway
MESH:D009393,Nephritis,Inflammation of any part of the KIDNEY.,"['Urogenital disease (female)', 'Urogenital disease (male)']",Viral myocarditis
MESH:D009395,"Nephritis, Interstitial","Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction.","['Urogenital disease (female)', 'Urogenital disease (male)']",Xenobiotics
MESH:D009397,Nephrocalcinosis,A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.,"['Metabolic disease', 'Urogenital disease (female)', 'Urogenital disease (male)']",Transport of inorganic cations/anions and amino acids/oligopeptides
MESH:D053040,Nephrolithiasis,Formation of stones in the KIDNEY.,"['Urogenital disease (female)', 'Urogenital disease (male)']",Vitamins
MESH:D009400,Nephrosclerosis,"Hardening of the KIDNEY due to infiltration by fibrous connective tissue (FIBROSIS), usually caused by renovascular diseases or chronic HYPERTENSION. Nephrosclerosis leads to renal ISCHEMIA.","['Urogenital disease (female)', 'Urogenital disease (male)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D009401,Nephrosis,Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.,"['Urogenital disease (female)', 'Urogenital disease (male)']",Viral myocarditis
MESH:D009402,"Nephrosis, Lipoid",A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA.,"['Urogenital disease (female)', 'Urogenital disease (male)']",Nephrin interactions
MESH:D009404,Nephrotic Syndrome,"A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.","['Urogenital disease (female)', 'Urogenital disease (male)']",Visual phototransduction
MESH:D009410,Nerve Degeneration,Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.,['Pathology (process)'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D018317,Nerve Sheath Neoplasms,"Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category.","['Cancer', 'Nervous system disease']",Viral carcinogenesis
MESH:D009422,Nervous System Diseases,"Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.",['Nervous system disease'],Xenobiotics
MESH:D009421,Nervous System Malformations,Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.,"['Congenital abnormality', 'Nervous system disease']",Viral myocarditis
MESH:D009437,Neuralgia,Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.,"['Nervous system disease', 'Signs and symptoms']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D051474,"Neuralgia, Postherpetic","Pain in nerves, frequently involving facial SKIN, resulting from the activation the latent varicella-zoster virus (HERPESVIRUS 3, HUMAN). The two forms of the condition preceding the pain are HERPES ZOSTER OTICUS; and HERPES ZOSTER OPHTHALMICUS. Following the healing of the rashes and blisters, the pain sometimes persists.","['Nervous system disease', 'Signs and symptoms']",Unfolded Protein Response (UPR)
MESH:D009436,Neural Tube Defects,"Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)","['Congenital abnormality', 'Nervous system disease']",Xenobiotics
MESH:D009442,Neurilemmoma,"A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)",['Cancer'],VEGFR2 mediated cell proliferation
MESH:D019150,Neuroaxonal Dystrophies,"A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)",['Nervous system disease'],Lysosome
MESH:D019954,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.","['Nervous system disease', 'Signs and symptoms']",Visual phototransduction
MESH:D009447,Neuroblastoma,"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)",['Cancer'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D019965,Neurocognitive Disorders,Diagnoses of DEMENTIA and AMNESTIC DISORDER are subsumed here. (DSM-5),['Mental disorder'],Vesicle-mediated transport
MESH:D019636,Neurodegenerative Diseases,Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.,['Nervous system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D065886,Neurodevelopmental Disorders,"These are a group of conditions with onset in the developmental period. The disorders typically manifest early in development, often before the child enters grade school, and are characterized by developmental deficits that produce impairments of personal, social, academic, or occupational functioning.  (From DSM-5).",['Mental disorder'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D017599,Neuroectodermal Tumors,"Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.",['Cancer'],Wnt signaling pathway
MESH:D018242,"Neuroectodermal Tumors, Primitive","A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059)",['Cancer'],Transcriptional Regulation by TP53
MESH:D018241,"Neuroectodermal Tumors, Primitive, Peripheral",A group of highly cellular primitive round cell neoplasms which occur extracranially in soft tissue and bone and are derived from embryonal neural crest cells. These tumors occur primarily in children and adolescents and share a number of characteristics with EWING SARCOMA.,['Cancer'],VEGFR2 mediated cell proliferation
MESH:D018358,Neuroendocrine Tumors,"Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition.",['Cancer'],Viral carcinogenesis
MESH:D018318,"Neurofibroma, Plexiform","A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)","['Cancer', 'Nervous system disease']",VEGFA-VEGFR2 Pathway
MESH:D020078,Neurogenic Inflammation,Inflammation caused by an injurious stimulus of peripheral neurons and resulting in release of neuropeptides which affect vascular permeability and help initiate proinflammatory and immune reactions at the site of injury.,"['Nervous system disease', 'Pathology (process)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D009461,Neurologic Manifestations,Clinical signs and symptoms caused by nervous system injury or dysfunction.,"['Nervous system disease', 'Signs and symptoms']",VEGFR2 mediated cell proliferation
MESH:D009468,Neuromuscular Diseases,"A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.",['Nervous system disease'],Signal Transduction
MESH:D020879,Neuromuscular Manifestations,"Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves.","['Nervous system disease', 'Signs and symptoms']",VEGFR2 mediated cell proliferation
MESH:D009471,Neuromyelitis Optica,"A syndrome characterized by acute OPTIC NEURITIS; MYELITIS, TRANSVERSE; demyelinating and/or necrotizing lesions in the OPTIC NERVES and SPINAL CORD; and presence of specific autoantibodies to AQUAPORIN 4.","['Eye disease', 'Immune system disease', 'Nervous system disease']",Vasopressin regulates renal water homeostasis via Aquaporins
MESH:D020258,Neurotoxicity Syndromes,"Neurologic disorders caused by exposure to toxic substances through ingestion, injection, cutaneous application, or other method. This includes conditions caused by biologic, chemical, and pharmaceutical agents.",['Nervous system disease'],Xenobiotics
MESH:D009503,Neutropenia,A decrease in the number of NEUTROPHILS found in the blood.,['Blood disease'],Vpr-mediated nuclear import of PICs
MESH:D052556,"Niemann-Pick Disease, Type C","An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes  a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.","['Genetic disease (inborn)', 'Lymphatic disease', 'Metabolic disease', 'Nervous system disease']",Steroid biosynthesis
MESH:D065626,Non-alcoholic Fatty Liver Disease,Fatty liver finding without excessive ALCOHOL CONSUMPTION.,['Digestive system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D054318,No-Reflow Phenomenon,Markedly reduced or absent REPERFUSION in an infarct zone following the removal of an obstruction or constriction of an artery.,['Pathology (process)'],Wnt signaling pathway
MESH:D009669,Nose Neoplasms,Tumors or cancer of the NOSE.,"['Cancer', 'Ear-nose-throat disease', 'Musculoskeletal disease', 'Respiratory tract disease']",Signaling by Interleukins
MESH:D020417,"Nystagmus, Congenital","Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)","['Eye disease', 'Infant-newborn disease', 'Nervous system disease']",Xenobiotics
MESH:D009765,Obesity,"A status with BODY WEIGHT that is grossly above the recommended standards, 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).","['Nutrition disorder', 'Signs and symptoms']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D009771,Obsessive-Compulsive Disorder,"An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension.",['Mental disorder'],Transmission across Chemical Synapses
MESH:D007752,"Obstetric Labor, Premature","Onset of OBSTETRIC LABOR before term (TERM BIRTH) but usually after the FETUS has become viable. In humans, it occurs sometime during the 29th through 38th week of PREGNANCY. TOCOLYSIS inhibits premature labor and can prevent the BIRTH of premature infants (INFANT, PREMATURE).",['Pregnancy complication'],Unfolded Protein Response (UPR)
MESH:D009784,Occupational Diseases,Diseases caused by factors involved in one's employment.,['Occupational disease'],Xenobiotics
MESH:D009798,Ocular Hypertension,A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma.,['Eye disease'],Unfolded Protein Response (UPR)
MESH:D000857,Olfaction Disorders,Impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions.,"['Nervous system disease', 'Signs and symptoms']",Vesicle-mediated transport
MESH:D009837,Oligodendroglioma,"A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)",['Cancer'],VEGFR2 mediated cell proliferation
MESH:D009839,Oligomenorrhea,Abnormally infrequent menstruation.,['Pathology (process)'],Steroid hormone biosynthesis
MESH:D009845,Oligospermia,"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.",['Urogenital disease (male)'],VEGF signaling pathway
MESH:D009846,Oliguria,Decreased URINE output that is below the normal range. Oliguria can be defined as urine output of less than or equal to 0.5 or 1 ml/kg/hr depending on the age.,"['Signs and symptoms', 'Urogenital disease (female)', 'Urogenital disease (male)']",Vesicle-mediated transport
MESH:D009886,Ophthalmoplegia,"Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.","['Eye disease', 'Nervous system disease', 'Signs and symptoms']",Metabolism of lipids and lipoproteins
MESH:D017246,"Ophthalmoplegia, Chronic Progressive External","A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)","['Eye disease', 'Metabolic disease', 'Musculoskeletal disease', 'Nervous system disease', 'Pathology (process)', 'Signs and symptoms']",Type I diabetes mellitus
MESH:D009293,Opioid-Related Disorders,Disorders related to or resulting from abuse or misuse of OPIOIDS.,"['Mental disorder', 'Substance-related disorder']",Terminal pathway of complement
MESH:D053578,Opsoclonus-Myoclonus Syndrome,"A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system.","['Cancer', 'Eye disease', 'Nervous system disease']",Signal Transduction
MESH:D009896,Optic Atrophy,"Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.","['Eye disease', 'Nervous system disease']",Transport of the SLBP Dependant Mature mRNA
MESH:D029241,"Optic Atrophy, Autosomal Dominant","Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.","['Eye disease', 'Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease']",Regulation of Apoptosis
MESH:D029242,"Optic Atrophy, Hereditary, Leber","A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))","['Eye disease', 'Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease']",Vitamin digestion and absorption
MESH:D009901,Optic Nerve Diseases,"Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.","['Eye disease', 'Nervous system disease']","Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)"
MESH:D009902,Optic Neuritis,"Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis).","['Eye disease', 'Nervous system disease']",Protein processing in endoplasmic reticulum
MESH:D018917,"Optic Neuropathy, Ischemic","Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)","['Cardiovascular disease', 'Eye disease', 'Nervous system disease']",Tuberculosis
MESH:D019226,Oral Ulcer,"A loss of mucous substance of the mouth showing local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. It is the result of a variety of causes, e.g., denture irritation, aphthous stomatitis (STOMATITIS, APHTHOUS); NOMA; necrotizing gingivitis (GINGIVITIS, NECROTIZING ULCERATIVE); TOOTHBRUSHING; and various irritants. (From Jablonski, Dictionary of Dentistry, 1992, p842)",['Mouth disease'],Transcriptional regulation of white adipocyte differentiation
MESH:D020163,Ornithine Carbamoyltransferase Deficiency Disease,"An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)","['Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease']",Urea cycle
MESH:D009976,Orthomyxoviridae Infections,Virus diseases caused by the ORTHOMYXOVIRIDAE.,['Viral disease'],Vitamin D (calciferol) metabolism
MESH:D054971,Orthostatic Intolerance,"Symptoms of cerebral hypoperfusion or autonomic overaction which develop while the subject is standing, but are relieved on recumbency. Types of this include NEUROCARDIOGENIC SYNCOPE; POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME; and neurogenic ORTHOSTATIC HYPOTENSION. (From Noseworthy, JH., Neurological Therapeutics Principles and Practice, 2007, p2575-2576)","['Nervous system disease', 'Signs and symptoms']","Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds"
MESH:D009999,"Ossification, Heterotopic",The development of bony substance in normally soft structures.,['Pathology (process)'],Vibrio cholerae infection
MESH:D010001,Osteitis Deformans,"A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry.",['Musculoskeletal disease'],Vpr-mediated nuclear import of PICs
MESH:D010003,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.",['Musculoskeletal disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D015207,"Osteoarthritis, Hip","Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.",['Musculoskeletal disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D020370,"Osteoarthritis, Knee","Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)",['Musculoskeletal disease'],Ubiquitin mediated proteolysis
MESH:D055013,"Osteoarthritis, Spine","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).",['Musculoskeletal disease'],Viral carcinogenesis
MESH:D010009,Osteochondrodysplasias,Abnormal development of cartilage and bone.,"['Genetic disease (inborn)', 'Musculoskeletal disease']",Visual phototransduction
MESH:D010014,Osteolysis,Dissolution of bone that particularly involves the removal or loss of calcium.,['Musculoskeletal disease'],Uptake and function of anthrax toxins
MESH:D010020,Osteonecrosis,"Death of a bone or part of a bone, either atraumatic or posttraumatic.","['Musculoskeletal disease', 'Pathology (process)']",Signaling by Interleukins
MESH:D010022,Osteopetrosis,"Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).",['Musculoskeletal disease'],Transmembrane transport of small molecules
MESH:D010024,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.","['Metabolic disease', 'Musculoskeletal disease']",XBP1(S) activates chaperone genes
MESH:D015663,"Osteoporosis, Postmenopausal","Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.","['Metabolic disease', 'Musculoskeletal disease']",UCH proteinases
MESH:D012516,Osteosarcoma,"A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)",['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D010026,Osteosclerosis,An abnormal hardening or increased density of bone tissue.,['Musculoskeletal disease'],Protein folding
MESH:D010048,Ovarian Cysts,General term for CYSTS and cystic diseases of the OVARY.,"['Cancer', 'Endocrine system disease', 'Urogenital disease (female)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D010049,Ovarian Diseases,Pathological processes of the OVARY.,"['Endocrine system disease', 'Urogenital disease (female)']",Transport to the Golgi and subsequent modification
MESH:D016471,Ovarian Hyperstimulation Syndrome,"A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.","['Endocrine system disease', 'Urogenital disease (female)']",Signal Transduction
MESH:D010051,Ovarian Neoplasms,"Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.","['Cancer', 'Endocrine system disease', 'Urogenital disease (female)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D050177,Overweight,"A status with BODY WEIGHT that is above certain standards. In the scale of BODY MASS INDEX, overweight is defined as having a BMI of 25.0-29.9 kg/m2. Overweight may or may not be due to increases in body fat (ADIPOSE TISSUE), hence overweight does not equal 'over fat'.","['Nutrition disorder', 'Signs and symptoms']",Signal Transduction
MESH:D010146,Pain,An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.,['Signs and symptoms'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D010148,"Pain, Intractable",Persistent pain that is refractory to some or all forms of treatment.,['Signs and symptoms'],Unfolded Protein Response (UPR)
MESH:D010149,"Pain, Postoperative",Pain during the period after surgery.,"['Pathology (process)', 'Signs and symptoms']",Transmembrane transport of small molecules
MESH:D010182,Pancreatic Diseases,Pathological processes of the PANCREAS.,['Digestive system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D010190,Pancreatic Neoplasms,"Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).","['Cancer', 'Digestive system disease', 'Endocrine system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D010195,Pancreatitis,"INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.",['Digestive system disease'],Wnt signaling pathway
MESH:D019283,"Pancreatitis, Acute Necrotizing","A severe form of acute INFLAMMATION of the PANCREAS characterized by one or more areas of NECROSIS in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. Massive pancreatic necrosis may lead to DIABETES MELLITUS, and malabsorption.",['Digestive system disease'],Signal Transduction
MESH:D019512,"Pancreatitis, Alcoholic",Acute or chronic INFLAMMATION of the PANCREAS due to excessive ALCOHOL DRINKING. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.,"['Digestive system disease', 'Substance-related disorder']",Signal Transduction
MESH:D050500,"Pancreatitis, Chronic","INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse.","['Digestive system disease', 'Pathology (process)']",Vibrio cholerae infection
MESH:D010198,Pancytopenia,"Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets.",['Blood disease'],Vitamin digestion and absorption
MESH:D016584,Panic Disorder,"A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait.",['Mental disorder'],Vesicle-mediated transport
MESH:D010212,Papilloma,"A circumscribed benign epithelial tumor projecting from the surrounding surface; more precisely, a benign epithelial neoplasm consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic cells. (Stedman, 25th ed)",['Cancer'],Wnt signaling pathway
MESH:D030361,Papillomavirus Infections,Neoplasms of the skin and mucous membranes caused by papillomaviruses. They are usually benign but some have a high risk for malignant progression.,"['Pathology (process)', 'Viral disease']",Viral myocarditis
MESH:D010214,Papillon-Lefevre Disease,"Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.","['Genetic disease (inborn)', 'Skin disease']",Vesicle-mediated transport
MESH:D010235,Paraganglioma,"A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion, such as the carotid body, or medulla of the adrenal gland (usually called a chromaffinoma or pheochromocytoma). It is more common in women than in men. (Stedman, 25th ed; from Segen, Dictionary of Modern Medicine, 1992)",['Cancer'],UCH proteinases
MESH:D010243,Paralysis,"A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)","['Nervous system disease', 'Signs and symptoms']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D010257,Paraneoplastic Syndromes,In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.,['Cancer'],Regulation of Hypoxia-inducible Factor (HIF) by oxygen
MESH:D010259,Paranoid Disorders,"Chronic mental disorders in which there has been an insidious development of a permanent and unshakeable delusional system (persecutory delusions or delusions of jealousy), accompanied by preservation of clear and orderly thinking. Emotional responses and behavior are consistent with the delusional state.",['Mental disorder'],Visual phototransduction
MESH:D010267,Parapsoriasis,"The term applied to a group of relatively uncommon inflammatory, maculopapular, scaly eruptions of unknown etiology and resistant to conventional treatment. Eruptions are both psoriatic and lichenoid in appearance, but the diseases are distinct from psoriasis, lichen planus, or other recognized dermatoses. Proposed nomenclature divides parapsoriasis into two distinct subgroups, PITYRIASIS LICHENOIDES and parapsoriasis en plaques (small- and large-plaque parapsoriasis).",['Skin disease'],Viral myocarditis
MESH:D010282,Parathyroid Neoplasms,Tumors or cancer of the PARATHYROID GLANDS.,"['Cancer', 'Endocrine system disease']",TCF dependent signaling in response to WNT
MESH:D010291,Paresis,"A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for PARALYSIS (severe or complete loss of motor function). In the older literature, paresis often referred specifically to paretic neurosyphilis (see NEUROSYPHILIS). 'General paresis' and 'general paralysis' may still carry that connotation. Bilateral lower extremity paresis is referred to as PARAPARESIS.","['Nervous system disease', 'Signs and symptoms']",Transmission across Chemical Synapses
MESH:D010292,Paresthesia,"Subjective cutaneous sensations (e.g., cold, warmth, tingling, pressure, etc.) that are experienced spontaneously in the absence of stimulation.","['Nervous system disease', 'Signs and symptoms']",Vesicle-mediated transport
MESH:D010300,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)",['Nervous system disease'],Xenobiotics
MESH:D010302,"Parkinson Disease, Secondary","Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)",['Nervous system disease'],VEGFR2 mediated cell proliferation
MESH:D020734,Parkinsonian Disorders,"A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.",['Nervous system disease'],XBP1(S) activates chaperone genes
MESH:D010382,Peliosis Hepatis,A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs.,"['Cardiovascular disease', 'Digestive system disease']",Thrombin signalling through proteinase activated receptors (PARs)
MESH:D010390,"Pemphigoid, Benign Mucous Membrane","A chronic blistering disease with predilection for mucous membranes and less frequently the skin, and with a tendency to scarring. It is sometimes called ocular pemphigoid because of conjunctival mucous membrane involvement.","['Eye disease', 'Skin disease']",Signal Transduction
MESH:D010391,"Pemphigoid, Bullous",A chronic and relatively benign subepidermal blistering disease usually of the elderly and without histopathologic acantholysis.,"['Immune system disease', 'Skin disease']",Unfolded Protein Response (UPR)
MESH:D010392,Pemphigus,Group of chronic blistering diseases characterized histologically by ACANTHOLYSIS and blister formation within the EPIDERMIS.,"['Immune system disease', 'Skin disease']",Viral carcinogenesis
MESH:D016506,"Pemphigus, Benign Familial","An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease.","['Genetic disease (inborn)', 'Skin disease']",Transmembrane transport of small molecules
MESH:D010409,Penile Diseases,Pathological processes involving the PENIS or its component tissues.,['Urogenital disease (male)'],Synthesis of PIPs at the Golgi membrane
MESH:D010411,Penile Induration,"A condition characterized by hardening of the PENIS due to the formation of fibrous plaques on the dorsolateral aspect of the PENIS, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both.","['Connective tissue disease', 'Urogenital disease (male)']",UCH proteinases
MESH:D010412,Penile Neoplasms,Cancers or tumors of the PENIS or of its component tissues.,"['Cancer', 'Urogenital disease (male)']",Wnt signaling pathway
MESH:D010437,Peptic Ulcer,Ulcer that occurs in the regions of the GASTROINTESTINAL TRACT which come into contact with GASTRIC JUICE containing PEPSIN and GASTRIC ACID. It occurs when there are defects in the MUCOSA barrier. The common forms of peptic ulcers are associated with HELICOBACTER PYLORI and the consumption of nonsteroidal anti-inflammatory drugs (NSAIDS).,['Digestive system disease'],Type I diabetes mellitus
MESH:D010438,Peptic Ulcer Hemorrhage,Bleeding from a PEPTIC ULCER that can be located in any segment of the GASTROINTESTINAL TRACT.,"['Digestive system disease', 'Pathology (process)']",Xenobiotics
MESH:D010490,Pericardial Effusion,Fluid accumulation within the PERICARDIUM. Serous effusions are associated with pericardial diseases. Hemopericardium is associated with trauma. Lipid-containing effusion (chylopericardium) results from leakage of THORACIC DUCT. Severe cases can lead to CARDIAC TAMPONADE.,['Cardiovascular disease'],VEGF signaling pathway
MESH:D010510,Periodontal Diseases,"Pathological processes involving the PERIODONTIUM including the gum (GINGIVA), the alveolar bone (ALVEOLAR PROCESS), the DENTAL CEMENTUM, and the PERIODONTAL LIGAMENT.",['Mouth disease'],Vesicle-mediated transport
MESH:D010518,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)",['Mouth disease'],Transcriptional misregulation in cancer
MESH:D058729,Peripheral Arterial Disease,"Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less.",['Cardiovascular disease'],TGF-beta signaling pathway
MESH:D059348,Peripheral Nerve Injuries,Injuries to the PERIPHERAL NERVES.,"['Nervous system disease', 'Wounds and injuries']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D010523,Peripheral Nervous System Diseases,"Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves.",['Nervous system disease'],Xenobiotics
MESH:D016491,Peripheral Vascular Diseases,Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART.,['Cardiovascular disease'],Xenobiotics
MESH:D056627,Peritoneal Fibrosis,"Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency.","['Digestive system disease', 'Pathology (process)']",UCH proteinases
MESH:D010538,Peritonitis,"INFLAMMATION of the PERITONEUM lining the ABDOMINAL CAVITY as the result of infectious, autoimmune, or chemical processes. Primary peritonitis is due to infection of the PERITONEAL CAVITY via hematogenous or lymphatic spread and without intra-abdominal source. Secondary peritonitis arises from the ABDOMINAL CAVITY itself through RUPTURE or ABSCESS of intra-abdominal organs.",['Digestive system disease'],Wnt signaling pathway
MESH:D018923,Persian Gulf Syndrome,"Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)",['Occupational disease'],Synthesis of 5-eicosatetraenoic acids
MESH:D010547,Persistent Fetal Circulation Syndrome,"A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT).","['Infant-newborn disease', 'Respiratory tract disease']",Urea cycle
MESH:D010554,Personality Disorders,A major deviation from normal patterns of behavior.,['Mental disorder'],Transmission across Chemical Synapses
MESH:D010623,Phencyclidine Abuse,The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.,"['Mental disorder', 'Substance-related disorder']",Wnt signaling pathway
MESH:D010673,Pheochromocytoma,"A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298)",['Cancer'],Vesicle-mediated transport
MESH:D010698,Phobic Disorders,"Anxiety disorders in which the essential feature is persistent and irrational fear of a specific object, activity, or situation that the individual feels compelled to avoid. The individual recognizes the fear as excessive or unreasonable.",['Mental disorder'],Tryptophan metabolism
MESH:D020795,Photophobia,Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.,"['Eye disease', 'Nervous system disease', 'Signs and symptoms']",Unfolded Protein Response (UPR)
MESH:D003557,Phyllodes Tumor,"A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known.",['Cancer'],Transcriptional regulation of white adipocyte differentiation
MESH:D020774,Pick Disease of the Brain,"A rare form of DEMENTIA that is sometimes familial. Clinical features include APHASIA; APRAXIA; CONFUSION; ANOMIA; memory loss; and personality deterioration. This pattern is consistent with the pathologic findings of circumscribed atrophy of the poles of the FRONTAL LOBE and TEMPORAL LOBE. Neuronal loss is maximal in the HIPPOCAMPUS, entorhinal cortex, and AMYGDALA. Some ballooned cortical neurons contain argentophylic (Pick) bodies. (From Brain Pathol 1998 Apr;8(2):339-54; Adams et al., Principles of Neurology, 6th ed, pp1057-9)","['Mental disorder', 'Nervous system disease']",Wnt signaling pathway
MESH:D010859,Pigmentation Disorders,"Diseases affecting PIGMENTATION, including SKIN PIGMENTATION.","['Pathology (process)', 'Skin disease']",Vesicle-mediated transport
MESH:D047748,Pituitary ACTH Hypersecretion,A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME.,"['Endocrine system disease', 'Nervous system disease']",Ub-specific processing proteases
MESH:D010899,Pituitary Apoplexy,"The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.","['Cardiovascular disease', 'Endocrine system disease', 'Nervous system disease']",Signal Transduction
MESH:D010900,Pituitary Diseases,Disorders involving either the ADENOHYPOPHYSIS or the NEUROHYPOPHYSIS. These diseases usually manifest as hypersecretion or hyposecretion of PITUITARY HORMONES. Neoplastic pituitary masses can also cause compression of the OPTIC CHIASM and other adjacent structures.,"['Endocrine system disease', 'Nervous system disease']",Signal Transduction
MESH:D010911,Pituitary Neoplasms,"Neoplasms which arise from or metastasize to the PITUITARY GLAND. The majority of pituitary neoplasms are adenomas, which are divided into non-secreting and secreting forms. Hormone producing forms are further classified by the type of hormone they secrete. Pituitary adenomas may also be characterized by their staining properties (see ADENOMA, BASOPHIL; ADENOMA, ACIDOPHIL; and ADENOMA, CHROMOPHOBE). Pituitary tumors may compress adjacent structures, including the HYPOTHALAMUS, several CRANIAL NERVES, and the OPTIC CHIASM. Chiasmal compression may result in bitemporal HEMIANOPSIA.","['Cancer', 'Endocrine system disease', 'Nervous system disease']",Viral carcinogenesis
MESH:D010916,Pityriasis Rubra Pilaris,"A chronic skin disease characterized by small follicular papules, disseminated reddish-brown scaly patches, and often, palmoplantar hyperkeratosis. The papules are about the size of a pin and topped by a horny plug.",['Skin disease'],NF-kappa B signaling pathway
MESH:D010922,Placenta Diseases,Pathological processes or abnormal functions of the PLACENTA.,['Pregnancy complication'],Type II diabetes mellitus
MESH:D010930,Plague,"An acute infectious disease caused by YERSINIA PESTIS that affects humans, wild rodents, and their ectoparasites. This condition persists due to its firm entrenchment in sylvatic rodent-flea ecosystems throughout the world. Bubonic plague is the most common form.",['Bacterial infection or mycosis'],Immune System
MESH:D058226,"Plaque, Atherosclerotic",Lesions formed within the walls of ARTERIES associated with deposits of fat and other substances that accumulate in the lining of the artery wall.,['Pathology (anatomical condition)'],Visual phototransduction
MESH:D010995,Pleural Diseases,Diseases involving the PLEURA.,['Respiratory tract disease'],Unfolded Protein Response (UPR)
MESH:D010996,Pleural Effusion,Presence of fluid in the pleural cavity resulting from excessive transudation or exudation from the pleural surfaces. It is a sign of disease and not a diagnosis in itself.,['Respiratory tract disease'],Type II diabetes mellitus
MESH:D010997,Pleural Neoplasms,Neoplasms of the thin serous membrane that envelopes the lungs and lines the thoracic cavity. Pleural neoplasms are exceedingly rare and are usually not diagnosed until they are advanced because in the early stages they produce no symptoms.,"['Cancer', 'Respiratory tract disease']",Toll-like receptor signaling pathway
MESH:D010998,Pleurisy,"INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN.",['Respiratory tract disease'],Viral myocarditis
MESH:D011008,Pneumococcal Infections,Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE.,['Bacterial infection or mycosis'],Tuberculosis
MESH:D011014,Pneumonia,Infection of the lung often accompanied by inflammation.,['Respiratory tract disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D011015,"Pneumonia, Aspiration","A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT.",['Respiratory tract disease'],Tuberculosis
MESH:D011018,"Pneumonia, Pneumococcal",A febrile disease caused by STREPTOCOCCUS PNEUMONIAE.,"['Bacterial infection or mycosis', 'Respiratory tract disease']",Viral carcinogenesis
MESH:D011024,"Pneumonia, Viral",Inflammation of the lung parenchyma that is caused by a viral infection.,"['Respiratory tract disease', 'Viral disease']",Renin secretion
MESH:D011030,Pneumothorax,"An accumulation of air or gas in the PLEURAL CAVITY, which may occur spontaneously or as a result of trauma or a pathological process. The gas may also be introduced deliberately during PNEUMOTHORAX, ARTIFICIAL.",['Respiratory tract disease'],Renal cell carcinoma
MESH:D016891,"Polycystic Kidney, Autosomal Dominant",Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.,"['Congenital abnormality', 'Genetic disease (inborn)', 'Urogenital disease (female)', 'Urogenital disease (male)']",Wnt signaling pathway
MESH:D007690,Polycystic Kidney Diseases,Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.,"['Congenital abnormality', 'Genetic disease (inborn)', 'Urogenital disease (female)', 'Urogenital disease (male)']",XBP1(S) activates chaperone genes
MESH:D011085,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.","['Cancer', 'Endocrine system disease', 'Urogenital disease (female)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D011086,Polycythemia,"An increase in the total red cell mass of the blood. (Dorland, 27th ed)",['Blood disease'],Vesicle-mediated transport
MESH:D011087,Polycythemia Vera,"A myeloproliferative disorder of unknown etiology, characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume, associated frequently with splenomegaly, leukocytosis, and thrombocythemia. Hematopoiesis is also reactive in extramedullary sites (liver and spleen). In time myelofibrosis occurs.","['Blood disease', 'Cancer']",Vesicle-mediated transport
MESH:D017689,Polydactyly,"A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.","['Congenital abnormality', 'Musculoskeletal disease']",Vesicle-mediated transport
MESH:D059606,Polydipsia,Excessive thirst manifested by excessive fluid intake. It is characteristic of many diseases such as DIABETES MELLITUS; DIABETES INSIPIDUS; and NEPHROGENIC DIABETES INSIPIDUS. The condition may be psychogenic in origin.,"['Pathology (process)', 'Signs and symptoms']",Transcriptional regulation of white adipocyte differentiation
MESH:D006831,Polyhydramnios,"A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities.",['Pregnancy complication'],Signal Transduction
MESH:D017285,Polymyositis,"Diseases characterized by inflammation involving multiple muscles. This may occur as an acute or chronic condition associated with medication toxicity (DRUG TOXICITY); CONNECTIVE TISSUE DISEASES; infections; malignant NEOPLASMS; and other disorders. The term polymyositis is frequently used to refer to a specific clinical entity characterized by subacute or slowly progressing symmetrical weakness primarily affecting the proximal limb and trunk muscles. The illness may occur at any age, but is most frequent in the fourth to sixth decade of life. Weakness of pharyngeal and laryngeal muscles, interstitial lung disease, and inflammation of the myocardium may also occur. Muscle biopsy reveals widespread destruction of segments of muscle fibers and an inflammatory cellular response. (Adams et al., Principles of Neurology, 6th ed, pp1404-9)","['Musculoskeletal disease', 'Nervous system disease']",Vitamins
MESH:D011115,Polyneuropathies,"Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance.",['Nervous system disease'],Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
MESH:D027601,Polyomavirus Infections,"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).",['Viral disease'],VEGFR2 mediated cell proliferation
MESH:D011123,Polyploidy,"The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.",['Pathology (process)'],Wnt signaling pathway
MESH:D011141,Polyuria,"Urination of a large volume of urine with an increase in urinary frequency, commonly seen in diabetes (DIABETES MELLITUS; DIABETES INSIPIDUS).","['Signs and symptoms', 'Urogenital disease (female)', 'Urogenital disease (male)']",Wnt signaling pathway
MESH:D017118,"Porphyria, Acute Intermittent","An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.","['Digestive system disease', 'Genetic disease (inborn)', 'Metabolic disease', 'Skin disease']",Porphyrin and chlorophyll metabolism
MESH:D017119,Porphyria Cutanea Tarda,An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in the LIVER. It is characterized by photosensitivity and cutaneous lesions with little or no neurologic symptoms. Type I is the acquired form and is strongly associated with liver diseases and hepatic toxicities caused by alcohol or estrogenic steroids. Type II is the familial form.,"['Digestive system disease', 'Genetic disease (inborn)', 'Metabolic disease', 'Skin disease']",Xenobiotics
MESH:D011164,Porphyrias,"A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.",['Metabolic disease'],Transcriptional activation of mitochondrial biogenesis
MESH:D017094,"Porphyrias, Hepatic","A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.","['Digestive system disease', 'Genetic disease (inborn)', 'Metabolic disease', 'Skin disease']",Porphyrin and chlorophyll metabolism
MESH:D046350,"Porphyria, Variegate","An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.","['Digestive system disease', 'Genetic disease (inborn)', 'Metabolic disease', 'Skin disease']",Porphyrin and chlorophyll metabolism
MESH:D054038,Posterior Leukoencephalopathy Syndrome,"A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies).",['Nervous system disease'],UCH proteinases
MESH:D011183,Postoperative Complications,"Pathologic processes that affect patients after a surgical procedure. They may or may not be related to the disease for which the surgery was done, and they may or may not be direct results of the surgery.",['Pathology (process)'],Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
MESH:D011218,Prader-Willi Syndrome,"An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)","['Congenital abnormality', 'Genetic disease (inborn)', 'Nervous system disease', 'Nutrition disorder']",Ubiquitin mediated proteolysis
MESH:D011230,Precancerous Conditions,Pathological conditions that tend eventually to become malignant.,['Cancer'],XBP1(S) activates chaperone genes
MESH:D015452,Precursor B-Cell Lymphoblastic Leukemia-Lymphoma,"A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia.","['Cancer', 'Immune system disease', 'Lymphatic disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D054198,Precursor Cell Lymphoblastic Leukemia-Lymphoma,A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.,"['Cancer', 'Immune system disease', 'Lymphatic disease']",Xenobiotics
MESH:D054218,Precursor T-Cell Lymphoblastic Leukemia-Lymphoma,"A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common.","['Cancer', 'Immune system disease', 'Lymphatic disease']",Wnt signaling pathway
MESH:D011225,Pre-Eclampsia,"A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease.",['Pregnancy complication'],VEGF signaling pathway
MESH:D011248,Pregnancy Complications,"Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases.",['Pregnancy complication'],VEGFR2 mediated cell proliferation
MESH:D011249,"Pregnancy Complications, Cardiovascular",The co-occurrence of pregnancy and a cardiovascular disease. The disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS.,"['Cardiovascular disease', 'Pregnancy complication']",Type II diabetes mellitus
MESH:D011271,"Pregnancy, Ectopic","A potentially life-threatening condition in which EMBRYO IMPLANTATION occurs outside the cavity of the UTERUS. Most ectopic pregnancies (>96%) occur in the FALLOPIAN TUBES, known as TUBAL PREGNANCY. They can be in other locations, such as UTERINE CERVIX; OVARY; and abdominal cavity (PREGNANCY, ABDOMINAL).",['Pregnancy complication'],Neutrophil degranulation
MESH:D047928,Premature Birth,"CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION).",['Pregnancy complication'],VEGF signaling pathway
MESH:D011297,Prenatal Exposure Delayed Effects,"The consequences of exposing the FETUS in utero to certain factors, such as NUTRITION PHYSIOLOGICAL PHENOMENA; PHYSIOLOGICAL STRESS; DRUGS; RADIATION; and other physical or chemical factors. These consequences are observed later in the offspring after BIRTH.",['Pregnancy complication'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D049188,Prenatal Injuries,"Damages to the EMBRYO, MAMMALIAN or the FETUS before BIRTH. Damages can be caused by any factors including biological, chemical, or physical.",['Pregnancy complication'],Zinc transporters
MESH:D055031,Primary Graft Dysfunction,"A form of ischemia-reperfusion injury occurring in the early period following transplantation. Significant pathophysiological changes in MITOCHONDRIA are the main cause of the dysfunction. It is most often seen in the transplanted lung, liver, or kidney and can lead to GRAFT REJECTION.","['Cardiovascular disease', 'Pathology (process)']",TNF signaling pathway
MESH:D055728,Primary Myelofibrosis,"A de novo myeloproliferation arising from an abnormal stem cell. It is characterized by the replacement of bone marrow by fibrous tissue, a process that is mediated by CYTOKINES arising from the abnormal clone.",['Blood disease'],Virus Assembly and Release
MESH:D016649,Primary Ovarian Insufficiency,"Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. The most commonly known genetic cause is the expansion of a CGG repeat to 55 to 199 copies in the 5' untranslated region in the X-linked FMR1 gene.","['Endocrine system disease', 'Urogenital disease (female)']",Xenobiotics
MESH:D017096,Prion Diseases,"A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)",['Nervous system disease'],Prion diseases
MESH:D011371,Progeria,"An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature graying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.","['Genetic disease (inborn)', 'Metabolic disease']",XBP1(S) activates chaperone genes
MESH:D015175,Prolactinoma,"A pituitary adenoma which secretes PROLACTIN, leading to HYPERPROLACTINEMIA. Clinical manifestations include AMENORRHEA; GALACTORRHEA; IMPOTENCE; HEADACHE; visual disturbances; and CEREBROSPINAL FLUID RHINORRHEA.","['Cancer', 'Endocrine system disease', 'Nervous system disease']",Transcriptional regulation of white adipocyte differentiation
MESH:D056693,Propionic Acidemia,"Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.","['Genetic disease (inborn)', 'Metabolic disease']","Valine, leucine and isoleucine degradation"
MESH:D011469,Prostatic Diseases,Pathological processes involving the PROSTATE or its component tissues.,['Urogenital disease (male)'],Vasopressin-like receptors
MESH:D011470,Prostatic Hyperplasia,"Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both.",['Urogenital disease (male)'],VEGFR2 mediated cell proliferation
MESH:D019048,Prostatic Intraepithelial Neoplasia,"A premalignant change arising in the prostatic epithelium, regarded as the most important and most likely precursor of prostatic adenocarcinoma. The neoplasia takes the form of an intra-acinar or ductal proliferation of secretory cells with unequivocal nuclear anaplasia, which corresponds to nuclear grade 2 and 3 invasive prostate cancer.",['Cancer'],Viral carcinogenesis
MESH:D011471,Prostatic Neoplasms,Tumors or cancer of the PROSTATE.,"['Cancer', 'Urogenital disease (male)']",Zinc transporters
MESH:D064129,"Prostatic Neoplasms, Castration-Resistant",Tumors or cancer of the PROSTATE which can grow in the presence of low or residual amount of androgen hormones such as TESTOSTERONE.,"['Cancer', 'Urogenital disease (male)']",Visual phototransduction
MESH:D011472,Prostatitis,"Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment.",['Urogenital disease (male)'],Tuberculosis
MESH:D020151,Protein C Deficiency,"An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.)","['Blood disease', 'Genetic disease (inborn)']",Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
MESH:D011488,Protein Deficiency,"A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (From Merck Manual, 16th ed; Harrison's Principles of Internal Medicine, 12th ed, p406)",['Nutrition disorder'],Tryptophan metabolism
MESH:D011507,Proteinuria,"The presence of proteins in the urine, an indicator of KIDNEY DISEASES.","['Signs and symptoms', 'Urogenital disease (female)', 'Urogenital disease (male)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D046351,"Protoporphyria, Erythropoietic","An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.","['Digestive system disease', 'Genetic disease (inborn)', 'Metabolic disease', 'Skin disease']",Vesicle-mediated transport
MESH:D011537,Pruritus,An intense itching sensation that produces the urge to rub or scratch the skin to obtain relief.,"['Signs and symptoms', 'Skin disease']",Xenobiotics
MESH:D011546,Pseudohypoaldosteronism,"A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION.","['Genetic disease (inborn)', 'Urogenital disease (female)', 'Urogenital disease (male)']",Vibrio cholerae infection
MESH:D011547,Pseudohypoparathyroidism,A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.,"['Genetic disease (inborn)', 'Metabolic disease', 'Musculoskeletal disease']",Vibrio cholerae infection
MESH:D011552,Pseudomonas Infections,Infections with bacteria of the genus PSEUDOMONAS.,['Bacterial infection or mycosis'],Vesicle-mediated transport
MESH:D011561,Pseudoxanthoma Elasticum,"An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.","['Blood disease', 'Cardiovascular disease', 'Congenital abnormality', 'Connective tissue disease', 'Genetic disease (inborn)', 'Skin disease']",Transmembrane transport of small molecules
MESH:D011565,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.",['Skin disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D011595,Psychomotor Agitation,A feeling of restlessness associated with increased motor activity. This may occur as a manifestation of nervous system drug toxicity or other conditions.,"['Nervous system disease', 'Signs and symptoms']",Vascular smooth muscle contraction
MESH:D011596,Psychomotor Disorders,Abnormalities of motor function that are associated with organic and non-organic cognitive disorders.,"['Nervous system disease', 'Signs and symptoms']",Vesicle-mediated transport
MESH:D011605,"Psychoses, Substance-Induced",Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.,"['Mental disorder', 'Substance-related disorder']",Wnt signaling pathway
MESH:D011618,Psychotic Disorders,"Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994)",['Mental disorder'],Vesicle-mediated transport
MESH:D011625,Pterygium,"An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)",['Eye disease'],Tuberculosis
MESH:D011628,"Puberty, Delayed","The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.",['Endocrine system disease'],Transport to the Golgi and subsequent modification
MESH:D011629,"Puberty, Precocious","Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.",['Endocrine system disease'],Vibrio cholerae infection
MESH:D011644,Puerperal Disorders,"Disorders or diseases associated with PUERPERIUM, the six-to-eight-week period immediately after PARTURITION in humans.",['Pregnancy complication'],Prolactin signaling pathway
MESH:D029424,"Pulmonary Disease, Chronic Obstructive",A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.,"['Pathology (process)', 'Respiratory tract disease']",Xenobiotics
MESH:D011654,Pulmonary Edema,"Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening.",['Respiratory tract disease'],Vesicle-mediated transport
MESH:D011655,Pulmonary Embolism,Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS.,"['Cardiovascular disease', 'Respiratory tract disease']",VEGFR2 mediated cell proliferation
MESH:D011656,Pulmonary Emphysema,Enlargement of air spaces distal to the TERMINAL BRONCHIOLES where gas-exchange normally takes place. This is usually due to destruction of the alveolar wall. Pulmonary emphysema can be classified by the location and distribution of the lesions.,"['Pathology (process)', 'Respiratory tract disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D011657,Pulmonary Eosinophilia,"A condition characterized by infiltration of the lung with EOSINOPHILS due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents.","['Blood disease', 'Respiratory tract disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D011658,Pulmonary Fibrosis,A process in which normal lung tissues are progressively replaced by FIBROBLASTS and COLLAGEN causing an irreversible loss of the ability to transfer oxygen into the bloodstream via PULMONARY ALVEOLI. Patients show progressive DYSPNEA finally resulting in death.,"['Pathology (process)', 'Respiratory tract disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D011668,Pulmonary Veno-Occlusive Disease,Pathological process resulting in the fibrous obstruction of the small- and medium-sized PULMONARY VEINS and PULMONARY HYPERTENSION. Veno-occlusion can arise from fibrous proliferation of the VASCULAR INTIMA and VASCULAR MEDIA; THROMBOSIS; or a combination of both.,"['Cardiovascular disease', 'Respiratory tract disease']",TGF-beta signaling pathway
MESH:D055665,Purpura Fulminans,"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.","['Blood disease', 'Pathology (process)', 'Signs and symptoms']",Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
MESH:D016553,"Purpura, Thrombocytopenic, Idiopathic","Thrombocytopenia occurring in the absence of toxic exposure or a disease associated with decreased platelets. It is mediated by immune mechanisms, in most cases IMMUNOGLOBULIN G autoantibodies which attach to platelets and subsequently undergo destruction by macrophages. The disease is seen in acute (affecting children) and chronic (adult) forms.","['Blood disease', 'Immune system disease', 'Pathology (process)', 'Signs and symptoms']",Post-translational protein modification
MESH:D011697,"Purpura, Thrombotic Thrombocytopenic","An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE. Mutations in the ADAMTS13 PROTEIN gene have been identified in familial cases.","['Blood disease', 'Pathology (process)', 'Signs and symptoms']",Post-translational protein modification
MESH:D011704,Pyelonephritis,Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA.,"['Urogenital disease (female)', 'Urogenital disease (male)']",Signaling by Interleukins
MESH:D017511,Pyoderma Gangrenosum,"An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown.",['Skin disease'],Tuberculosis
MESH:D011778,Q Fever,"An acute infectious disease caused by COXIELLA BURNETII. It is characterized by a sudden onset of FEVER; HEADACHE; malaise; and weakness. In humans, it is commonly contracted by inhalation of infected dusts derived from infected domestic animals (ANIMALS, DOMESTIC).",['Bacterial infection or mycosis'],Visual phototransduction
MESH:D011782,Quadriplegia,Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts.,"['Nervous system disease', 'Signs and symptoms']",Protein folding
MESH:D011832,Radiation Injuries,Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES.,['Wounds and injuries'],Peroxisome
MESH:D011833,"Radiation Injuries, Experimental",Experimentally produced harmful effects of ionizing or non-ionizing RADIATION in CHORDATA animals.,['Wounds and injuries'],Viral carcinogenesis
MESH:D011928,Raynaud Disease,"An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress.","['Cardiovascular disease', 'Skin disease']",Tuberculosis
MESH:D012004,Rectal Neoplasms,Tumors or cancer of the RECTUM.,"['Cancer', 'Digestive system disease']",Wnt signaling pathway
MESH:D012008,Recurrence,"The return of a sign, symptom, or disease after a remission.",['Pathology (process)'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D012021,"Reflex, Abnormal","An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.","['Nervous system disease', 'Signs and symptoms']","Valine, leucine and isoleucine degradation"
MESH:D012035,Refsum Disease,"An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.","['Congenital abnormality', 'Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease']",Peroxisome
MESH:D051437,Renal Insufficiency,"Conditions in which the KIDNEYS perform below the normal level in the ability to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Renal insufficiency can be classified by the degree of kidney damage (as measured by the level of PROTEINURIA) and reduction in GLOMERULAR FILTRATION RATE.","['Urogenital disease (female)', 'Urogenital disease (male)']",Vitamins
MESH:D051436,"Renal Insufficiency, Chronic","Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)","['Pathology (process)', 'Urogenital disease (female)', 'Urogenital disease (male)']",Vesicle-mediated transport
MESH:D015427,Reperfusion Injury,"Adverse functional, metabolic, or structural changes in tissues that result from the restoration of blood flow to the tissue (REPERFUSION) following ISCHEMIA.","['Cardiovascular disease', 'Pathology (process)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D012120,Respiration Disorders,Diseases of the respiratory system in general or unspecified or for a specific respiratory disease not available.,['Respiratory tract disease'],Vibrio cholerae infection
MESH:D012128,Respiratory Distress Syndrome,"A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.",['Respiratory tract disease'],Wnt signaling pathway
MESH:D012127,"Respiratory Distress Syndrome, Newborn","A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.","['Infant-newborn disease', 'Respiratory tract disease']",Striated Muscle Contraction
MESH:D012130,Respiratory Hypersensitivity,"A form of hypersensitivity affecting the respiratory tract. It includes ASTHMA and RHINITIS, ALLERGIC, SEASONAL.","['Immune system disease', 'Respiratory tract disease']",Zinc transporters
MESH:D012131,Respiratory Insufficiency,"Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)",['Respiratory tract disease'],Vitamin digestion and absorption
MESH:D012135,Respiratory Sounds,"Noises, normal and abnormal, heard on auscultation over any part of the RESPIRATORY TRACT.",['Signs and symptoms'],Th1 and Th2 cell differentiation
MESH:D018357,Respiratory Syncytial Virus Infections,Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported.,['Viral disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D015619,Respiratory System Abnormalities,Congenital structural abnormalities of the respiratory system.,"['Congenital abnormality', 'Respiratory tract disease']",VEGFR2 mediated cell proliferation
MESH:D012140,Respiratory Tract Diseases,Diseases involving the RESPIRATORY SYSTEM.,['Respiratory tract disease'],Vesicle-mediated transport
MESH:D012141,Respiratory Tract Infections,"Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.",['Respiratory tract disease'],Signal Transduction
MESH:D012148,Restless Legs Syndrome,A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.,"['Mental disorder', 'Nervous system disease']",Vesicle-mediated transport
MESH:D045262,Reticulocytosis,"An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA.",['Signs and symptoms'],Peroxisome
MESH:D012162,Retinal Degeneration,"A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)",['Eye disease'],VxPx cargo-targeting to cilium
MESH:D012163,Retinal Detachment,"Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12).",['Eye disease'],Visual phototransduction
MESH:D012164,Retinal Diseases,Diseases involving the RETINA.,['Eye disease'],Wnt signaling pathway
MESH:D015792,Retinal Dysplasia,"Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary.","['Congenital abnormality', 'Eye disease', 'Genetic disease (inborn)']",Transport of the SLBP Dependant Mature mRNA
MESH:D015861,Retinal Neovascularization,Formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina.,"['Eye disease', 'Pathology (process)']",VEGFR2 mediated cell proliferation
MESH:D012170,Retinal Vein Occlusion,Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES.,"['Cardiovascular disease', 'Eye disease']",Vesicle-mediated transport
MESH:D012173,Retinitis,"Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis).",['Eye disease'],Signal Transduction
MESH:D012174,Retinitis Pigmentosa,"Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.","['Eye disease', 'Genetic disease (inborn)']",VxPx cargo-targeting to cilium
MESH:D012175,Retinoblastoma,"A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104)","['Cancer', 'Eye disease']",Viral carcinogenesis
MESH:D012178,Retinopathy of Prematurity,"A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)","['Eye disease', 'Infant-newborn disease']",Signal Transduction
MESH:D012206,Rhabdomyolysis,Necrosis or disintegration of skeletal muscle often followed by myoglobinuria.,['Musculoskeletal disease'],Xenobiotics
MESH:D012208,Rhabdomyosarcoma,"A malignant solid tumor arising from mesenchymal tissues which normally differentiate to form striated muscle. It can occur in a wide variety of sites. It is divided into four distinct types: pleomorphic, predominantly in male adults; alveolar (RHABDOMYOSARCOMA, ALVEOLAR), mainly in adolescents and young adults; embryonal (RHABDOMYOSARCOMA, EMBRYONAL), predominantly in infants and children; and botryoidal, also in young children. It is one of the most frequently occurring soft tissue sarcomas and the most common in children under 15. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p2186; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1647-9)",['Cancer'],VEGF signaling pathway
MESH:D018232,"Rhabdomyosarcoma, Alveolar","A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. 'Alveolar' refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)",['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D018233,"Rhabdomyosarcoma, Embryonal","A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)",['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D012220,Rhinitis,"Inflammation of the NASAL MUCOSA, the mucous membrane lining the NASAL CAVITIES.","['Ear-nose-throat disease', 'Respiratory tract disease']",Vibrio cholerae infection
MESH:D065631,"Rhinitis, Allergic",An inflammation of the NASAL MUCOSA triggered by ALLERGENS.,"['Ear-nose-throat disease', 'Immune system disease', 'Respiratory tract disease']",Vesicle-mediated transport
MESH:D012221,"Rhinitis, Allergic, Perennial","Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc.","['Ear-nose-throat disease', 'Immune system disease', 'Respiratory tract disease']",Vesicle-mediated transport
MESH:D006255,"Rhinitis, Allergic, Seasonal","Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS.","['Ear-nose-throat disease', 'Immune system disease', 'Respiratory tract disease']",Salivary secretion
MESH:D012279,Rickets,"Disorders caused by interruption of BONE MINERALIZATION manifesting as OSTEOMALACIA in adults and characteristic deformities in infancy and childhood due to disturbances in normal BONE FORMATION. The mineralization process may be interrupted by disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis, resulting from dietary deficiencies, or acquired, or inherited metabolic, or hormonal disturbances.","['Metabolic disease', 'Musculoskeletal disease', 'Nutrition disorder']",Vitamins
MESH:D012282,Rickettsia Infections,Infections by the genus RICKETTSIA.,['Bacterial infection or mycosis'],Signal Transduction
MESH:D029597,Romano-Ward Syndrome,A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.,"['Cardiovascular disease', 'Congenital abnormality', 'Pathology (process)']",Voltage gated Potassium channels
MESH:D012393,Rosacea,"A cutaneous disorder primarily of convexities of the central part of the FACE, such as FOREHEAD; CHEEK; NOSE; and CHIN. It is characterized by FLUSHING; ERYTHEMA; EDEMA; RHINOPHYMA; papules; and ocular symptoms. It may occur at any age but typically after age 30. There are various subtypes of rosacea: erythematotelangiectatic, papulopustular, phymatous, and ocular (National Rosacea Society's Expert Committee on the Classification and Staging of Rosacea, J Am Acad Dermatol 2002; 46:584-7).",['Skin disease'],Tuberculosis
MESH:D012422,"Rupture, Spontaneous","Tear or break of an organ, vessel or other soft part of the body, occurring in the absence of external force.",['Pathology (anatomical condition)'],Protein digestion and absorption
MESH:D058566,Sacroiliitis,"Inflammation of the SACROILIAC JOINT. It is characterized by lower back pain, especially upon walking, fever, UVEITIS; PSORIASIS; and decreased range of motion. Many factors are associated with and cause sacroiliitis including infection; injury to spine, lower back, and pelvis; DEGENERATIVE ARTHRITIS; and pregnancy.",['Musculoskeletal disease'],Signal Transduction
MESH:D020225,Sagittal Sinus Thrombosis,"Formation or presence of a blood clot (THROMBUS) in the SUPERIOR SAGITTAL SINUS or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, CRANIOCEREBRAL TRAUMA; and NEUROSURGICAL PROCEDURES. Clinical features are primarily related to the increased intracranial pressure causing HEADACHE; NAUSEA; and VOMITING. Severe cases can evolve to SEIZURES or COMA.","['Cardiovascular disease', 'Nervous system disease']",Vesicle-mediated transport
MESH:D012468,Salivary Gland Neoplasms,Tumors or cancer of the SALIVARY GLANDS.,"['Cancer', 'Mouth disease']",Wnt signaling pathway
MESH:D012481,"Salmonella Infections, Animal",Infections in animals with bacteria of the genus SALMONELLA.,"['Animal disease', 'Bacterial infection or mycosis']",Unfolded Protein Response (UPR)
MESH:D012507,Sarcoidosis,"An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands.","['Immune system disease', 'Lymphatic disease']",Viral myocarditis
MESH:D012509,Sarcoma,A connective tissue neoplasm formed by proliferation of mesodermal cells; it is usually highly malignant.,['Cancer'],Wnt signaling pathway
MESH:D012512,"Sarcoma, Ewing","A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. The tumor occurs usually before the age of 20, about twice as frequently in males as in females.",['Cancer'],Viral carcinogenesis
MESH:D012513,"Sarcoma, Experimental",Experimentally induced neoplasms of CONNECTIVE TISSUE in animals to provide a model for studying human SARCOMA.,['Cancer'],Regulation of Hypoxia-inducible Factor (HIF) by oxygen
MESH:D012514,"Sarcoma, Kaposi","A multicentric, malignant neoplastic vascular proliferation characterized by the development of bluish-red cutaneous nodules, usually on the lower extremities, most often on the toes or feet, and slowly increasing in size and number and spreading to more proximal areas. The tumors have endothelium-lined channels and vascular spaces admixed with variably sized aggregates of spindle-shaped cells, and often remain confined to the skin and subcutaneous tissue, but widespread visceral involvement may occur. Kaposi's sarcoma occurs spontaneously in Jewish and Italian males in Europe and the United States. An aggressive variant in young children is endemic in some areas of Africa. A third form occurs in about 0.04% of kidney transplant patients. There is also a high incidence in AIDS patients. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, pp2105-7) HHV-8 is the suspected cause.","['Cancer', 'Viral disease']",Tuberculosis
MESH:D013584,"Sarcoma, Synovial","A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363)",['Cancer'],Tuberculosis
MESH:D012555,Schistosomiasis mansoni,"Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver.",['Parasitic disease'],Tuberculosis
MESH:D012559,Schizophrenia,"A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.",['Mental disorder'],XBP1(S) activates chaperone genes
MESH:D012563,"Schizophrenia, Paranoid","A chronic form of schizophrenia characterized primarily by the presence of persecutory or grandiose delusions, often associated with hallucination.",['Mental disorder'],Semaphorin interactions
MESH:D019967,Schizophrenia Spectrum and Other Psychotic Disorders,"Marked disorders of thought (delusions, hallucinations, or other thought disorder accompanied by disordered affect or behavior), and deterioration from a previous level of functioning. Individuals have one o more of the following symptoms: delusions, hallucinations, and disorganized speech. (from DSM-5)",['Mental disorder'],Tyrosine metabolism
MESH:D019873,Schnitzler Syndrome,"An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate.",['Immune system disease'],Signaling by Interleukins
MESH:D020426,Sciatic Neuropathy,"Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)",['Nervous system disease'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D045743,"Scleroderma, Diffuse","A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability.","['Connective tissue disease', 'Skin disease']",UCH proteinases
MESH:D012594,"Scleroderma, Localized","A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules.","['Connective tissue disease', 'Skin disease']",XBP1(S) activates chaperone genes
MESH:D012595,"Scleroderma, Systemic","A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.","['Connective tissue disease', 'Skin disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D012598,Sclerosis,"A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve.",['Pathology (process)'],Signaling by Interleukins
MESH:D012600,Scoliosis,"An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)",['Musculoskeletal disease'],Thyroid hormone signaling pathway
MESH:D012608,Scrapie,"A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS.","['Animal disease', 'Nervous system disease']",Unfolded Protein Response (UPR)
MESH:D012640,Seizures,"Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or 'seizure disorder.'","['Nervous system disease', 'Signs and symptoms']",Zinc transporters
MESH:D003294,"Seizures, Febrile","Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)","['Nervous system disease', 'Signs and symptoms']",Uptake and actions of bacterial toxins
MESH:D018239,Seminoma,"A radiosensitive, malignant neoplasm of the testis, thought to be derived from primordial germ cells of the sexually undifferentiated embryonic gonad. There are three variants: classical (typical), the most common type; anaplastic; and spermatocytic. The classical seminoma is composed of fairly well differentiated sheets or cords of uniform polygonal or round cells (seminoma cells), each cell having abundant clear cytoplasm, distinct cell membranes, a centrally placed round nucleus, and one or more nucleoli. In the female, a grossly and histologically identical neoplasm, known as dysgerminoma, occurs. (Dorland, 27th ed)",['Cancer'],Viral carcinogenesis
MESH:D012678,Sensation Disorders,"Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM).","['Nervous system disease', 'Signs and symptoms']",Signal Transduction
MESH:D018805,Sepsis,"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.",['Pathology (process)'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D012713,Serum Sickness,"Immune complex disease caused by the administration of foreign serum or serum proteins and characterized by fever, lymphadenopathy, arthralgia, and urticaria. When they are complexed to protein carriers, some drugs can also cause serum sickness when they act as haptens inducing antibody responses.",['Skin disease'],Vesicle-mediated transport
MESH:D045169,Severe Acute Respiratory Syndrome,"A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.","['Respiratory tract disease', 'Viral disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D020018,"Sexual Dysfunctions, Psychological","Disturbances in sexual desire and the psychophysiologic changes that characterize the sexual response cycle and cause marked distress and interpersonal difficulty. (APA, DSM-IV, 1994)",['Mental disorder'],Xenobiotics
MESH:D012751,Sezary Syndrome,"A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).","['Cancer', 'Immune system disease', 'Lymphatic disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D012769,Shock,A pathological condition manifested by failure to perfuse or oxygenate vital organs.,['Pathology (process)'],Vesicle-mediated transport
MESH:D012770,"Shock, Cardiogenic",Shock resulting from diminution of cardiac output in heart disease.,"['Cardiovascular disease', 'Pathology (process)']",Transcriptional misregulation in cancer
MESH:D012771,"Shock, Hemorrhagic",Acute hemorrhage or excessive fluid loss resulting in HYPOVOLEMIA.,['Pathology (process)'],Viral myocarditis
MESH:D012772,"Shock, Septic",Sepsis associated with HYPOTENSION or hypoperfusion despite adequate fluid resuscitation. Perfusion abnormalities may include but are not limited to LACTIC ACIDOSIS; OLIGURIA; or acute alteration in mental status.,['Pathology (process)'],Vitamin D (calciferol) metabolism
MESH:D012791,Shy-Drager Syndrome,"A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)","['Cardiovascular disease', 'Nervous system disease']",Vesicle-mediated transport
MESH:D012798,Sialorrhea,Increased salivary flow.,['Mouth disease'],Tachykinin receptors bind tachykinins
MESH:D012804,Sick Sinus Syndrome,"A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.","['Cardiovascular disease', 'Pathology (process)']",Viral myocarditis
MESH:D012848,Sinoatrial Block,Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the SINOATRIAL NODE to the HEART ATRIA. It is characterized by a delayed in heartbeat and pauses between P waves in an ELECTROCARDIOGRAM.,"['Cardiovascular disease', 'Pathology (process)']",XBP1(S) activates chaperone genes
MESH:D012852,Sinusitis,Inflammation of the NASAL MUCOSA in one or more of the PARANASAL SINUSES.,"['Ear-nose-throat disease', 'Respiratory tract disease']",Vibrio cholerae infection
MESH:D012851,"Sinus Thrombosis, Intracranial","Formation or presence of a blood clot (THROMBUS) in the CRANIAL SINUSES, large endothelium-lined venous channels situated within the SKULL. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe HEADACHE; SEIZURE; and other neurological defects.","['Cardiovascular disease', 'Nervous system disease']",Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
MESH:D012857,Situs Inversus,"A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins.",['Congenital abnormality'],TGF-beta signaling pathway
MESH:D016111,Sjogren-Larsson Syndrome,An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.,"['Congenital abnormality', 'Genetic disease (inborn)', 'Infant-newborn disease', 'Metabolic disease', 'Skin disease']","Valine, leucine and isoleucine degradation"
MESH:D012859,Sjogren's Syndrome,"Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.","['Connective tissue disease', 'Eye disease', 'Immune system disease', 'Mouth disease', 'Musculoskeletal disease']",Vesicle-mediated transport
MESH:D012868,Skin Abnormalities,Congenital structural abnormalities of the skin.,"['Congenital abnormality', 'Skin disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D012871,Skin Diseases,Diseases involving the DERMIS or EPIDERMIS.,['Skin disease'],Vitamin C (ascorbate) metabolism
MESH:D017445,"Skin Diseases, Vascular","Skin diseases affecting or involving the cutaneous blood vessels and generally manifested as inflammation, swelling, erythema, or necrosis in the affected area.",['Skin disease'],Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
MESH:D012877,Skin Manifestations,Dermatologic disorders attendant upon non-dermatologic disease or injury.,['Signs and symptoms'],Vesicle-mediated transport
MESH:D012878,Skin Neoplasms,Tumors or cancer of the SKIN.,"['Cancer', 'Skin disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D012883,Skin Ulcer,An ULCER of the skin and underlying tissues.,['Skin disease'],Viral myocarditis
MESH:D020181,"Sleep Apnea, Obstructive","A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)","['Nervous system disease', 'Respiratory tract disease']",Vascular smooth muscle contraction
MESH:D012891,Sleep Apnea Syndromes,"Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.","['Nervous system disease', 'Respiratory tract disease']",Transmission across Chemical Synapses
MESH:D012892,Sleep Deprivation,"The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder.","['Mental disorder', 'Nervous system disease', 'Signs and symptoms']",Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
MESH:D020178,"Sleep Disorders, Circadian Rhythm","Dyssomnias associated with disruption of the normal 24 hour sleep wake cycle secondary to travel (e.g., JET LAG SYNDROME), shift work, or other causes.","['Mental disorder', 'Nervous system disease', 'Occupational disease']",Tryptophan metabolism
MESH:D007319,Sleep Initiation and Maintenance Disorders,Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition.,"['Mental disorder', 'Nervous system disease']",Vascular smooth muscle contraction
MESH:D012893,Sleep Wake Disorders,"Abnormal sleep-wake schedule or pattern associated with the CIRCADIAN RHYTHM which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.","['Mental disorder', 'Nervous system disease', 'Signs and symptoms']",Type I diabetes mellitus
MESH:D055752,Small Cell Lung Carcinoma,A form of highly malignant lung cancer that is composed of small ovoid cells (SMALL CELL CARCINOMA).,"['Cancer', 'Respiratory tract disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D019082,Smith-Lemli-Opitz Syndrome,"An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.","['Congenital abnormality', 'Genetic disease (inborn)', 'Metabolic disease']",Steroid biosynthesis
MESH:D058496,Smith-Magenis Syndrome,"Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.","['Congenital abnormality', 'Genetic disease (inborn)', 'Nervous system disease']",Circadian Clock
MESH:D018235,Smooth Muscle Tumor,"A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle.",['Cancer'],Transcriptional Regulation by TP53
MESH:D012912,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.",['Signs and symptoms'],TRP channels
MESH:D012983,Soft Tissue Neoplasms,"Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc.",['Cancer'],Type II diabetes mellitus
MESH:D013001,Somatoform Disorders,"Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by another medical condition, by the direct effects of a substance, or by another mental disorder. The MEDICALLY UNEXPLAINED SYMPTOMS must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to FACTITIOUS DISORDERS and MALINGERING, the physical symptoms are not under voluntary control. (APA, DSM-V)",['Mental disorder'],Tuberculosis
MESH:D020886,Somatosensory Disorders,"Disorders of sensory information received from superficial and deep regions of the body. The somatosensory system conveys neural impulses which pertain to proprioception, tactile sensation, thermal sensation, pressure sensation, and pain. PERIPHERAL NERVOUS SYSTEM DISEASES; SPINAL CORD DISEASES; and BRAIN DISEASES may be associated with impaired or abnormal somatic sensation.","['Nervous system disease', 'Signs and symptoms']",Signaling by Interleukins
MESH:D013035,Spasm,An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE.,"['Nervous system disease', 'Signs and symptoms']",Vasopressin-like receptors
MESH:D013036,"Spasms, Infantile","An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)",['Nervous system disease'],Vesicle-mediated transport
MESH:D013064,Speech Disorders,Acquired or developmental conditions marked by an impaired ability to comprehend or generate spoken forms of language.,"['Nervous system disease', 'Signs and symptoms']",VEGFR2 mediated cell proliferation
MESH:D016137,Spina Bifida Cystica,"A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbook of Neuropathology, 2nd ed, pp224-5)","['Congenital abnormality', 'Nervous system disease']",Transmission across Chemical Synapses
MESH:D013117,Spinal Cord Compression,"Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence.","['Nervous system disease', 'Wounds and injuries']",Unfolded Protein Response (UPR)
MESH:D013118,Spinal Cord Diseases,"Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord.",['Nervous system disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D013119,Spinal Cord Injuries,"Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).","['Nervous system disease', 'Wounds and injuries']",XBP1(S) activates chaperone genes
MESH:D020760,Spinal Cord Ischemia,"Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue.","['Cardiovascular disease', 'Nervous system disease']",Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
MESH:D013121,Spinal Curvatures,"Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS).",['Musculoskeletal disease'],Signal Transduction
MESH:D016135,Spinal Dysraphism,"Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)","['Congenital abnormality', 'Nervous system disease']",Wnt signaling pathway
MESH:D020754,Spinocerebellar Ataxias,"A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)","['Genetic disease (inborn)', 'Nervous system disease']",Wnt signaling pathway
MESH:D013132,Spinocerebellar Degenerations,"A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.","['Genetic disease (inborn)', 'Nervous system disease']",Protein processing in endoplasmic reticulum
MESH:D013158,Splenic Diseases,Diseases involving the SPLEEN.,['Lymphatic disease'],Xenobiotics
MESH:D013160,Splenic Neoplasms,Tumors or cancer of the SPLEEN.,"['Cancer', 'Lymphatic disease']",Viral carcinogenesis
MESH:D013163,Splenomegaly,Enlargement of the spleen.,['Pathology (anatomical condition)'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D013167,"Spondylitis, Ankylosing","A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions.",['Musculoskeletal disease'],Viral myocarditis
MESH:D000077195,Squamous Cell Carcinoma of Head and Neck,"The most common type of head and neck carcinoma that originates from cells on the surface of the NASAL CAVITY; MOUTH; PARANASAL SINUSES, SALIVARY GLANDS, and LARYNX. Mutations in TNFRSF10B, PTEN, and ING1 genes are associated with this cancer.",['Cancer'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D013203,Staphylococcal Infections,Infections with bacteria of the genus STAPHYLOCOCCUS.,['Bacterial infection or mycosis'],Vesicle-mediated transport
MESH:D013217,Starvation,"Lengthy and continuous deprivation of food. (Stedman, 25th ed)",['Nutrition disorder'],Vesicle-mediated transport
MESH:D013226,Status Epilepticus,"A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)","['Nervous system disease', 'Signs and symptoms']",Wnt signaling pathway
MESH:D000072657,ST Elevation Myocardial Infarction,"A clinical syndrome defined by MYOCARDIAL ISCHEMIA symptoms; persistent elevation in the ST segments of the ELECTROCARDIOGRAM; and release of BIOMARKERS of myocardial NECROSIS (e.g., elevated TROPONIN levels). ST segment elevation in the ECG is often used in determining the treatment protocol (see also NON-ST ELEVATION MYOCARDIAL INFARCTION).","['Cardiovascular disease', 'Pathology (process)']",Neutrophil degranulation
MESH:D019956,Stereotypic Movement Disorder,"Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (DSM-IV, 1994)",['Mental disorder'],TRIF-mediated TLR3/TLR4 signaling
MESH:D013262,Stevens-Johnson Syndrome,"Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.","['Immune system disease', 'Mouth disease', 'Skin disease']",Wnt signaling pathway
MESH:D013272,Stomach Diseases,Pathological processes involving the STOMACH.,['Digestive system disease'],"Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)"
MESH:D013274,Stomach Neoplasms,Tumors or cancer of the STOMACH.,"['Cancer', 'Digestive system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D013276,Stomach Ulcer,Ulceration of the GASTRIC MUCOSA due to contact with GASTRIC JUICE. It is often associated with HELICOBACTER PYLORI infection or consumption of nonsteroidal anti-inflammatory drugs (NSAIDS).,['Digestive system disease'],Vesicle-mediated transport
MESH:D013280,Stomatitis,"INFLAMMATION of the soft tissues of the MOUTH, such as MUCOSA; PALATE; GINGIVA; and LIP.",['Mouth disease'],Tuberculosis
MESH:D009057,Stomatognathic Diseases,"General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx.",['Mouth disease'],VEGFR2 mediated cell proliferation
MESH:D013313,"Stress Disorders, Post-Traumatic",A class of traumatic stress disorders with symptoms that last more than one month.,['Mental disorder'],Signal Transduction
MESH:D020521,Stroke,"A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)","['Cardiovascular disease', 'Nervous system disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D053608,Stupor,"A state of reduced sensibility and response to stimuli which is distinguished from COMA in that the person can be aroused by vigorous and repeated stimulation. The person is still conscious and can make voluntary movements. It can be induced by CENTRAL NERVOUS SYSTEM AGENTS. The word derives from Latin stupere and is related to stunned, stupid, dazed or LETHARGY.","['Nervous system disease', 'Signs and symptoms']",Signal Transduction
MESH:D013341,Sturge-Weber Syndrome,"A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.","['Cancer', 'Cardiovascular disease', 'Nervous system disease']",Vascular smooth muscle contraction
MESH:D013342,Stuttering,"A disturbance in the normal fluency and time patterning of speech that is inappropriate for the individual's age. This disturbance is characterized by frequent repetitions or prolongations of sounds or syllables. Various other types of speech dysfluencies may also be involved including interjections, broken words, audible or silent blocking, circumlocutions, words produced with an excess of physical tension, and monosyllabic whole word repetitions. Stuttering may occur as a developmental condition in childhood or as an acquired disorder which may be associated with BRAIN INFARCTIONS and other BRAIN DISEASES. (From DSM-IV, 1994)","['Nervous system disease', 'Signs and symptoms']",Cell adhesion molecules (CAMs)
MESH:D013345,Subarachnoid Hemorrhage,"Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status.","['Cardiovascular disease', 'Nervous system disease', 'Pathology (process)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D019966,Substance-Related Disorders,Disorders related to substance use or abuse.,"['Mental disorder', 'Substance-related disorder']",Xenobiotics
MESH:D013375,Substance Withdrawal Syndrome,"Physiological and psychological symptoms associated with withdrawal from the use of a drug after prolonged administration or habituation. The concept includes withdrawal from smoking or drinking, as well as withdrawal from an administered drug.","['Mental disorder', 'Substance-related disorder']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D013398,Sudden Infant Death,"The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)",['Pathology (process)'],Transmission across Chemical Synapses
MESH:D013471,Sunburn,"An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight.","['Skin disease', 'Wounds and injuries']",Transcription of the HIV genome
MESH:D013479,Superior Vena Cava Syndrome,"A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms which is called Pemberton's sign. Classification of SVC obstruction is often based on COLLATERAL CIRCULATION.",['Cardiovascular disease'],Signal Transduction
MESH:D013494,"Supranuclear Palsy, Progressive","A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)","['Eye disease', 'Nervous system disease', 'Signs and symptoms']",Vesicle-mediated transport
MESH:D015173,Supratentorial Neoplasms,"Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and BRAIN STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.","['Cancer', 'Nervous system disease']",Transcriptional Regulation by TP53
MESH:D013576,Syndactyly,"A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.","['Congenital abnormality', 'Musculoskeletal disease']",Wnt signaling pathway
MESH:D013585,Synovitis,Inflammation of the SYNOVIAL MEMBRANE.,['Musculoskeletal disease'],Viral myocarditis
MESH:D056647,Systemic Vasculitis,A heterogeneous group of diseases characterized by inflammation and necrosis of the blood vessel walls.,['Cardiovascular disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D013610,Tachycardia,"Abnormally rapid heartbeat, usually with a HEART RATE above 100 beats per minute for adults. Tachycardia accompanied by disturbance in the cardiac depolarization (cardiac arrhythmia) is called tachyarrhythmia.","['Cardiovascular disease', 'Pathology (process)']",Xenobiotics
MESH:D013616,"Tachycardia, Sinus","Simple rapid heartbeats caused by rapid discharge of impulses from the SINOATRIAL NODE, usually between 100 and 180 beats/min in adults. It is characterized by a gradual onset and termination. Sinus tachycardia is common in infants, young children, and adults during strenuous physical activities.","['Cardiovascular disease', 'Pathology (process)']",Xenobiotics
MESH:D013617,"Tachycardia, Supraventricular",A generic expression for any tachycardia that originates above the BUNDLE OF HIS.,"['Cardiovascular disease', 'Pathology (process)']",Vascular smooth muscle contraction
MESH:D017180,"Tachycardia, Ventricular","An abnormally rapid ventricular rhythm usually in excess of 150 beats per minute. It is generated within the ventricle below the BUNDLE OF HIS, either as autonomic impulse formation or reentrant impulse conduction. Depending on the etiology, onset of ventricular tachycardia can be paroxysmal (sudden) or nonparoxysmal, its wide QRS complexes can be uniform or polymorphic, and the ventricular beating may be independent of the atrial beating (AV dissociation).","['Cardiovascular disease', 'Pathology (process)']",XBP1(S) activates chaperone genes
MESH:D013625,Takayasu Arteritis,"A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy.","['Cardiovascular disease', 'Skin disease']",Tuberculosis
MESH:D013651,Taste Disorders,"Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases).","['Nervous system disease', 'Signs and symptoms']",Vasopressin-like receptors
MESH:D024801,Tauopathies,"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.",['Nervous system disease'],Wnt signaling pathway
MESH:D013684,Telangiectasis,"Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders.",['Cardiovascular disease'],Signal Transduction
MESH:D013705,Temporomandibular Joint Disorders,"A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia. (From Thoma's Oral Pathology, 6th ed, pp577-600)","['Mouth disease', 'Musculoskeletal disease']",Tyrosine metabolism
MESH:D064793,Teratogenesis,The formation of CONGENITAL ABNORMALITIES.,['Pathology (process)'],Wnt signaling pathway
MESH:D000072660,Teratozoospermia,Conditions in which sperm show abnormal morphology.,['Urogenital disease (male)'],VEGF signaling pathway
MESH:D013733,Testicular Diseases,Pathological processes of the TESTIS.,"['Endocrine system disease', 'Urogenital disease (male)']",Wnt signaling pathway
MESH:D013736,Testicular Neoplasms,Tumors or cancer of the TESTIS. Germ cell tumors (GERMINOMA) of the testis constitute 95% of all testicular neoplasms.,"['Cancer', 'Endocrine system disease', 'Urogenital disease (male)']",VEGFR2 mediated cell proliferation
MESH:D013771,Tetralogy of Fallot,"A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS.","['Cardiovascular disease', 'Congenital abnormality']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D013832,Thiamine Deficiency,"A nutritional condition produced by a deficiency of THIAMINE in the diet, characterized by anorexia, irritability, and weight loss. Later, patients experience weakness, peripheral neuropathy, headache, and tachycardia. In addition to being caused by a poor diet, thiamine deficiency in the United States most commonly occurs as a result of alcoholism, since ethanol interferes with thiamine absorption. In countries relying on polished rice as a dietary staple, BERIBERI prevalence is very high. (From Cecil Textbook of Medicine, 19th ed, p1171)",['Nutrition disorder'],Vesicle-mediated transport
MESH:D013896,Thoracic Diseases,Disorders affecting the organs of the thorax.,['Respiratory tract disease'],PPAR signaling pathway
MESH:D013899,Thoracic Neoplasms,New abnormal growth of tissue in the THORAX.,['Cancer'],Transcriptional regulation of pluripotent stem cells
MESH:D013920,"Thrombocythemia, Essential",A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets.,['Blood disease'],VEGFR2 mediated cell proliferation
MESH:D013921,Thrombocytopenia,A subnormal level of BLOOD PLATELETS.,['Blood disease'],Viral myocarditis
MESH:D013922,Thrombocytosis,"Increased numbers of platelets in the peripheral blood. (Dorland, 27th ed)",['Blood disease'],Virus Assembly and Release
MESH:D013923,Thromboembolism,Obstruction of a blood vessel (embolism) by a blood clot (THROMBUS) in the blood stream.,['Cardiovascular disease'],Vesicle-mediated transport
MESH:D019851,Thrombophilia,A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS.,['Blood disease'],Vesicle-mediated transport
MESH:D013927,Thrombosis,Formation and development of a thrombus or blood clot in the blood vessel.,['Cardiovascular disease'],Xenobiotics
MESH:D057049,Thrombotic Microangiopathies,"Diseases that result in THROMBOSIS in MICROVASCULATURE. The two most prominent diseases are PURPURA, THROMBOTIC THROMBOCYTOPENIC; and HEMOLYTIC-UREMIC SYNDROME. Multiple etiological factors include VASCULAR ENDOTHELIAL CELL damage due to SHIGA TOXIN; FACTOR H deficiency; and aberrant VON WILLEBRAND FACTOR formation.",['Blood disease'],VEGF signaling pathway
MESH:D013953,Thymus Neoplasms,Tumors or cancer of the THYMUS GLAND.,"['Cancer', 'Lymphatic disease']",PD-1 signaling
MESH:D000077273,"Thyroid Cancer, Papillary","An ADENOCARCINOMA that originates from follicular cells of the THYROID GLAND and accounts for the majority of THYROID CANCER cases. Cells exhibit enlarged, oval, or elongated morphologies with clear, round, nuclei. Fusions of RET, NTRK1, TPM3, and PCM1 genes are associated with this cancer.","['Cancer', 'Endocrine system disease']",Vesicle-mediated transport
MESH:D065646,"Thyroid Carcinoma, Anaplastic","An aggressive THYROID GLAND malignancy which generally occurs in IODINE-deficient areas in people with previous thyroid pathology such as GOITER. It is associated with CELL DEDIFFERENTIATION of THYROID CARCINOMA (e.g., FOLLICULAR THYROID CARCINOMA; PAPILLARY THYROID CANCER). Typical initial presentation is a rapidly growing neck mass which upon metastasis is associated with DYSPHAGIA; NECK PAIN; bone pain; DYSPNEA; and NEUROLOGIC DEFICITS.",['Cancer'],Peroxisome
MESH:D013959,Thyroid Diseases,Pathological processes involving the THYROID GLAND.,['Endocrine system disease'],Vesicle-mediated transport
MESH:D018382,Thyroid Hormone Resistance Syndrome,"An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.",['Endocrine system disease'],Thyroid hormone signaling pathway
MESH:D013967,"Thyroiditis, Autoimmune",Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis.,"['Endocrine system disease', 'Immune system disease']",Thyroid hormone synthesis
MESH:D013964,Thyroid Neoplasms,Tumors or cancer of the THYROID GLAND.,"['Cancer', 'Endocrine system disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D013971,Thyrotoxicosis,A hypermetabolic syndrome caused by excess THYROID HORMONES which may come from endogenous or exogenous sources. The endogenous source of hormone may be thyroid HYPERPLASIA; THYROID NEOPLASMS; or hormone-producing extrathyroidal tissue. Thyrotoxicosis is characterized by NERVOUSNESS; TACHYCARDIA; FATIGUE; WEIGHT LOSS; heat intolerance; and excessive SWEATING.,['Endocrine system disease'],Thyroid hormone synthesis
MESH:D013981,Tic Disorders,"Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)","['Mental disorder', 'Nervous system disease']","Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds"
MESH:D020323,Tics,"Habitual, repeated, rapid contraction of certain muscles, resulting in stereotyped individualized actions that can be voluntarily suppressed for only brief periods. They often involve the face, vocal cords, neck, and less often the extremities. Examples include repetitive throat clearing, vocalizations, sniffing, pursing the lips, and excessive blinking. Tics tend to be aggravated by emotional stress. When frequent they may interfere with speech and INTERPERSONAL RELATIONS. Conditions which feature frequent and prominent tics as a primary manifestation of disease are referred to as TIC DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, pp109-10)","['Nervous system disease', 'Signs and symptoms']",Uptake and actions of bacterial toxins
MESH:D014012,Tinnitus,"A nonspecific symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, and other noises in the ear. Objective tinnitus refers to noises generated from within the ear or adjacent structures that can be heard by other individuals. The term subjective tinnitus is used when the sound is audible only to the affected individual. Tinnitus may occur as a manifestation of COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; and other conditions.","['Ear-nose-throat disease', 'Nervous system disease', 'Signs and symptoms']",Tuberculosis
MESH:D014029,Tobacco Use Disorder,Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included.,"['Mental disorder', 'Substance-related disorder']",Xenobiotics
MESH:D014062,Tongue Neoplasms,Tumors or cancer of the TONGUE.,"['Cancer', 'Mouth disease']",Viral carcinogenesis
MESH:D014098,Toothache,Pain in the adjacent areas of the teeth.,"['Mouth disease', 'Signs and symptoms']",Signal Transduction
MESH:D014076,Tooth Diseases,Diseases involving the TEETH.,['Mouth disease'],Wnt signaling pathway
MESH:D016171,Torsades de Pointes,"A malignant form of polymorphic ventricular tachycardia that is characterized by HEART RATE between 200 and 250 beats per minute, and QRS complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long QT intervals exceeding 500 milliseconds or BRADYCARDIA. Torsades de pointes may be self-limited or may progress to VENTRICULAR FIBRILLATION.","['Cardiovascular disease', 'Pathology (process)']",Xenobiotics
MESH:D014103,Torticollis,"A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors.",['Signs and symptoms'],Signal Transduction
MESH:D005879,Tourette Syndrome,"A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)","['Genetic disease (inborn)', 'Mental disorder', 'Nervous system disease']",Signal Transduction
MESH:D014178,"Translocation, Genetic","A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.",['Pathology (process)'],Visual phototransduction
MESH:D014188,Transposition of Great Vessels,"A congenital cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE, and the PULMONARY ARTERY arises from the LEFT VENTRICLE. Consequently, the pulmonary and the systemic circulations are parallel and not sequential, so that the venous return from the peripheral circulation is re-circulated by the right ventricle via aorta to the systemic circulation without being oxygenated in the lungs. This is a potentially lethal form of heart disease in newborns and infants.","['Cardiovascular disease', 'Congenital abnormality']",Sphingolipid metabolism
MESH:D014202,Tremor,"Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE.","['Nervous system disease', 'Signs and symptoms']",Xenobiotics
MESH:D014277,Trigeminal Neuralgia,"A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)","['Mouth disease', 'Nervous system disease']",Wnt signaling pathway
MESH:D064726,Triple Negative Breast Neoplasms,Breast neoplasms that do not express ESTROGEN RECEPTORS; PROGESTERONE RECEPTORS; and do not overexpress the NEU RECEPTOR/HER-2 PROTO-ONCOGENE PROTEIN.,"['Cancer', 'Skin disease']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D014313,Trismus,"Spasmodic contraction of the masseter muscle resulting in forceful jaw closure. This may be seen with a variety of diseases, including TETANUS, as a complication of radiation therapy, trauma, or in association with neoplastic conditions.","['Nervous system disease', 'Signs and symptoms']",Transmission across Chemical Synapses
MESH:D014314,Trisomy,The possession of a third chromosome of any one type in an otherwise diploid cell.,['Pathology (process)'],Viral carcinogenesis
MESH:D014339,"Truncus Arteriosus, Persistent","A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular septal defect.","['Cardiovascular disease', 'Congenital abnormality']",Axon guidance
MESH:D014376,Tuberculosis,Any of the infectious diseases of man and other animals caused by species of MYCOBACTERIUM TUBERCULOSIS.,['Bacterial infection or mycosis'],Vesicle-mediated transport
MESH:D014397,"Tuberculosis, Pulmonary",MYCOBACTERIUM infections of the lung.,"['Bacterial infection or mycosis', 'Respiratory tract disease']",Wnt signaling pathway
MESH:D014402,Tuberous Sclerosis,"Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.","['Cancer', 'Congenital abnormality', 'Genetic disease (inborn)', 'Nervous system disease']",Vesicle-mediated transport
MESH:D014424,Turner Syndrome,"A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.","['Cardiovascular disease', 'Congenital abnormality', 'Endocrine system disease', 'Genetic disease (inborn)', 'Urogenital disease (female)', 'Urogenital disease (male)']",Tuberculosis
MESH:D014435,Typhoid Fever,"An acute systemic febrile infection caused by SALMONELLA TYPHI, a serotype of SALMONELLA ENTERICA.",['Bacterial infection or mycosis'],Viral myocarditis
MESH:D020176,Tyrosinemias,"A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)","['Genetic disease (inborn)', 'Metabolic disease', 'Nervous system disease']",Ubiquinone and other terpenoid-quinone biosynthesis
MESH:D014456,Ulcer,"A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.",['Pathology (process)'],Unfolded Protein Response (UPR)
MESH:D014474,Unconsciousness,"Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli. (From Adams et al., Principles of Neurology, 6th ed, pp344-5)","['Nervous system disease', 'Signs and symptoms']",Signal Transduction
MESH:D020194,Unverricht-Lundborg Syndrome,"An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, DYSARTHRIA, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110)","['Genetic disease (inborn)', 'Nervous system disease']",Neutrophil degranulation
MESH:D038062,"Upper Extremity Deformities, Congenital",Congenital structural abnormalities of the UPPER EXTREMITY.,"['Congenital abnormality', 'Musculoskeletal disease']",PRC2 methylates histones and DNA
MESH:D014511,Uremia,"A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.","['Urogenital disease (female)', 'Urogenital disease (male)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D014514,Ureteral Calculi,Stones in the URETER that are formed in the KIDNEY. They are rarely more than 5 mm in diameter for larger renal stones cannot enter ureters. They are often lodged at the ureteral narrowing and can cause excruciating renal colic.,"['Pathology (anatomical condition)', 'Urogenital disease (female)', 'Urogenital disease (male)']",Tryptophan metabolism
MESH:D014516,Ureteral Neoplasms,"Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom.","['Cancer', 'Urogenital disease (female)', 'Urogenital disease (male)']",Xenobiotics
MESH:D014517,Ureteral Obstruction,"Blockage in any part of the URETER causing obstruction of urine flow from the kidney to the URINARY BLADDER. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as HYDRONEPHROSIS and obstructive nephropathy.","['Urogenital disease (female)', 'Urogenital disease (male)']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D001744,Urinary Bladder Calculi,"Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths.","['Pathology (anatomical condition)', 'Urogenital disease (female)', 'Urogenital disease (male)']",Xenobiotics
MESH:D001745,Urinary Bladder Diseases,Pathological processes of the URINARY BLADDER.,"['Urogenital disease (female)', 'Urogenital disease (male)']",Vesicle-mediated transport
MESH:D001748,Urinary Bladder Neck Obstruction,"Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands.","['Urogenital disease (female)', 'Urogenital disease (male)']",VEGF signaling pathway
MESH:D001749,Urinary Bladder Neoplasms,Tumors or cancer of the URINARY BLADDER.,"['Cancer', 'Urogenital disease (female)', 'Urogenital disease (male)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D001750,"Urinary Bladder, Neurogenic","Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES.","['Nervous system disease', 'Signs and symptoms', 'Urogenital disease (female)', 'Urogenital disease (male)']",Vesicle-mediated transport
MESH:D053201,"Urinary Bladder, Overactive","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.","['Signs and symptoms', 'Urogenital disease (female)', 'Urogenital disease (male)']",TRP channels
MESH:D016055,Urinary Retention,Inability to empty the URINARY BLADDER with voiding (URINATION).,"['Urogenital disease (female)', 'Urogenital disease (male)']",TNF signaling pathway
MESH:D014552,Urinary Tract Infections,Inflammatory responses of the epithelium of the URINARY TRACT to microbial invasions. They are often bacterial infections with associated BACTERIURIA and PYURIA.,"['Urogenital disease (female)', 'Urogenital disease (male)']",Tuberculosis
MESH:D014555,Urination Disorders,"Abnormalities in the process of URINE voiding, including bladder control, frequency of URINATION, as well as the volume and composition of URINE.","['Urogenital disease (female)', 'Urogenital disease (male)']",YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D014564,Urogenital Abnormalities,Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.,"['Congenital abnormality', 'Urogenital disease (female)', 'Urogenital disease (male)']",Tuberculosis
MESH:D014565,Urogenital Neoplasms,Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female.,"['Cancer', 'Urogenital disease (female)', 'Urogenital disease (male)']",Wnt signaling pathway
MESH:D052878,Urolithiasis,"Formation of stones in any part of the URINARY TRACT, usually in the KIDNEY; URINARY BLADDER; or the URETER.","['Urogenital disease (female)', 'Urogenital disease (male)']",Ubiquinone and other terpenoid-quinone biosynthesis
MESH:D014571,Urologic Neoplasms,Tumors or cancer of the URINARY TRACT in either the male or the female.,"['Cancer', 'Urogenital disease (female)', 'Urogenital disease (male)']",Wnt signaling pathway
MESH:D014581,Urticaria,"A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.","['Immune system disease', 'Skin disease']",Viral myocarditis
MESH:D002578,Uterine Cervical Dysplasia,"Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE.","['Cancer', 'Urogenital disease (female)']",Transcriptional Regulation by TP53
MESH:D002583,Uterine Cervical Neoplasms,Tumors or cancer of the UTERINE CERVIX.,"['Cancer', 'Urogenital disease (female)']",Wnt signaling pathway
MESH:D014591,Uterine Diseases,Pathological processes involving any part of the UTERUS.,['Urogenital disease (female)'],Transport to the Golgi and subsequent modification
MESH:D014594,Uterine Neoplasms,Tumors or cancer of the UTERUS.,"['Cancer', 'Urogenital disease (female)']",Wnt signaling pathway
MESH:D014605,Uveitis,"Inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, and commonly involving the other tunics (sclera and cornea, and the retina). (Dorland, 27th ed)",['Eye disease'],Wnt signaling pathway
MESH:D014607,Uveomeningoencephalitic Syndrome,"A syndrome characterized by bilateral granulomatous UVEITIS with IRITIS and secondary GLAUCOMA, premature ALOPECIA, symmetrical VITILIGO, poliosis circumscripta (a strand of depigmented hair), HEARING DISORDERS, and meningeal signs (neck stiffness and headache). Examination of the cerebrospinal fluid reveals a pattern consistent with MENINGITIS, ASEPTIC. (Adams et al., Principles of Neurology, 6th ed, p748; Surv Ophthalmol 1995 Jan;39(4):265-292)","['Eye disease', 'Immune system disease', 'Nervous system disease']",Tuberculosis
MESH:D014625,Vaginal Neoplasms,Tumors or cancer of the VAGINA.,"['Cancer', 'Urogenital disease (female)']",VEGFR2 mediated cell proliferation
MESH:D014648,Varicose Veins,Enlarged and tortuous VEINS.,['Cardiovascular disease'],Syndecan interactions
MESH:D061205,Vascular Calcification,Deposition of calcium into the blood vessel structures. Excessive calcification of the vessels is associated with ATHEROSCLEROTIC PLAQUES formation particularly after MYOCARDIAL INFARCTION (see MONCKEBERG MEDIAL CALCIFIC SCLEROSIS) and chronic kidney diseases which in turn increase VASCULAR STIFFNESS.,['Metabolic disease'],Wnt signaling pathway
MESH:D014652,Vascular Diseases,Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body.,['Cardiovascular disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D054079,Vascular Malformations,"A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases.","['Cardiovascular disease', 'Congenital abnormality']",Signal Transduction
MESH:D066253,Vascular Remodeling,"The active alterations of vascular wall structures, often leading to elevated VASCULAR RESISTANCE. It is associated with AGING; ATHEROSCLEROSIS; DIABETES MELLITUS; HYPERTENSION; PREGNANCY; PULMONARY HYPERTENSION; and STROKE, but is also a normal part of EMBRYOGENESIS.","['Pathology (anatomical condition)', 'Pathology (process)']",SUMOylation
MESH:D057772,Vascular System Injuries,"Injuries to blood vessels caused by laceration, contusion, puncture, or crush and other types of injuries. Symptoms vary by site and mode of injuries and may include bleeding, bruising, swelling, pain, and numbness. It does not include injuries secondary to pathologic function or diseases such as ATHEROSCLEROSIS.","['Cardiovascular disease', 'Wounds and injuries']",Type II diabetes mellitus
MESH:D014657,Vasculitis,"Inflammation of any one of the blood vessels, including the ARTERIES; VEINS; and rest of the vasculature system in the body.",['Cardiovascular disease'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D020301,"Vasospasm, Intracranial","Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN).","['Cardiovascular disease', 'Nervous system disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D054556,Venous Thromboembolism,Obstruction of a vein or VEINS (embolism) by a blood clot (THROMBUS) in the blood stream.,['Cardiovascular disease'],Vesicle-mediated transport
MESH:D020246,Venous Thrombosis,The formation or presence of a blood clot (THROMBUS) within a vein.,['Cardiovascular disease'],Vesicle-mediated transport
MESH:D018754,Ventricular Dysfunction,A condition in which HEART VENTRICLES exhibit impaired function.,['Cardiovascular disease'],Viral myocarditis
MESH:D018487,"Ventricular Dysfunction, Left",A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall.,['Cardiovascular disease'],Wnt signaling pathway
MESH:D018497,"Ventricular Dysfunction, Right","A condition in which the RIGHT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE or MYOCARDIAL INFARCTION, and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the right ventricular wall.",['Cardiovascular disease'],cGMP-PKG signaling pathway
MESH:D014693,Ventricular Fibrillation,A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness (SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST.,"['Cardiovascular disease', 'Pathology (process)']",Vesicle-mediated transport
MESH:D014694,Ventricular Outflow Obstruction,"Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS.",['Cardiovascular disease'],Vesicle-mediated transport
MESH:D018879,Ventricular Premature Complexes,A type of cardiac arrhythmia with premature contractions of the HEART VENTRICLES. It is characterized by the premature QRS complex on ECG that is of abnormal shape and great duration (generally >129 msec). It is the most common form of all cardiac arrhythmias. Premature ventricular complexes have no clinical significance except in concurrence with heart diseases.,"['Cardiovascular disease', 'Pathology (process)']",VEGF signaling pathway
MESH:D020257,Ventricular Remodeling,"The geometric and structural changes that the HEART VENTRICLES undergo, usually following MYOCARDIAL INFARCTION. It comprises expansion of the infarct and dilatation of the healthy ventricle segments. While most prevalent in the left ventricle, it can also occur in the right ventricle.",['Pathology (anatomical condition)'],YAP1- and WWTR1 (TAZ)-stimulated gene expression
MESH:D014718,Vesico-Ureteral Reflux,Retrograde flow of urine from the URINARY BLADDER into the URETER. This is often due to incompetence of the vesicoureteral valve.,"['Urogenital disease (female)', 'Urogenital disease (male)']",Wnt signaling pathway
MESH:D015837,Vestibular Diseases,Pathological processes of the VESTIBULAR LABYRINTH which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.,['Ear-nose-throat disease'],VEGF signaling pathway
MESH:D003969,Vipoma,"A tumor that secretes VASOACTIVE INTESTINAL PEPTIDE, a neuropeptide that causes VASODILATION; relaxation of smooth muscles; watery DIARRHEA; HYPOKALEMIA; and HYPOCHLORHYDRIA. Vipomas, derived from the pancreatic ISLET CELLS, generally are malignant and can secrete other hormones. In most cases, Vipomas are located in the PANCREAS but can be found in extrapancreatic sites.","['Cancer', 'Digestive system disease', 'Endocrine system disease']",Tuberculosis
MESH:D014766,Viremia,The presence of viruses in the blood.,"['Pathology (process)', 'Viral disease']",Tuberculosis
MESH:D014777,Virus Diseases,A general term for diseases caused by viruses.,['Viral disease'],Toll-like receptor signaling pathway
MESH:D014786,Vision Disorders,"Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132).","['Eye disease', 'Nervous system disease', 'Signs and symptoms']",Ub-specific processing proteases
MESH:D014802,Vitamin A Deficiency,"A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)",['Nutrition disorder'],Vitamin digestion and absorption
MESH:D014806,Vitamin B 12 Deficiency,"A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)",['Nutrition disorder'],Peroxisome
MESH:D014808,Vitamin D Deficiency,"A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)",['Nutrition disorder'],Vitamin D (calciferol) metabolism
MESH:D014820,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.",['Skin disease'],Viral myocarditis
MESH:D014839,Vomiting,The forcible expulsion of the contents of the STOMACH through the MOUTH.,['Signs and symptoms'],Vesicle-mediated transport
MESH:D008258,Waldenstrom Macroglobulinemia,"A lymphoproliferative disorder characterized by pleomorphic B-LYMPHOCYTES including PLASMA CELLS, with increased levels of monoclonal serum IMMUNOGLOBULIN M. There is lymphoplasmacytic cells infiltration into bone marrow and often other tissues, also known as lymphoplasmacytic lymphoma. Clinical features include ANEMIA; HEMORRHAGES; and hyperviscosity.","['Blood disease', 'Cancer', 'Cardiovascular disease', 'Immune system disease', 'Lymphatic disease']",ZBP1(DAI) mediated induction of type I IFNs
MESH:D014855,Wallerian Degeneration,Degeneration of distal aspects of a nerve axon following injury to the cell body or proximal portion of the axon. The process is characterized by fragmentation of the axon and its MYELIN SHEATH.,['Pathology (process)'],Ubiquitin mediated proteolysis
MESH:D014869,Water Intoxication,A condition resulting from the excessive retention of water with sodium depletion.,['Metabolic disease'],Vasopressin-like receptors
MESH:D015430,Weight Gain,Increase in BODY WEIGHT over existing weight.,['Signs and symptoms'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D015431,Weight Loss,Decrease in existing BODY WEIGHT.,['Signs and symptoms'],ZBP1(DAI) mediated induction of type I IFNs
MESH:D014898,Werner Syndrome,"An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.","['Genetic disease (inborn)', 'Metabolic disease']",Transcriptional Regulation by TP53
MESH:D014899,Wernicke Encephalopathy,"An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)","['Mental disorder', 'Metabolic disease', 'Nervous system disease', 'Nutrition disorder', 'Substance-related disorder']",Pentose phosphate pathway (Pentose phosphate cycle)
MESH:D014901,West Nile Fever,"A mosquito-borne viral illness caused by the WEST NILE VIRUS, a FLAVIVIRUS and endemic to regions of Africa, Asia, and Europe. Common clinical features include HEADACHE; FEVER; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. MENINGITIS; ENCEPHALITIS; and MYELITIS may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)","['Nervous system disease', 'Viral disease']",Viral carcinogenesis
MESH:D009396,Wilms Tumor,"A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.","['Cancer', 'Genetic disease (inborn)', 'Urogenital disease (female)', 'Urogenital disease (male)']",Wnt signaling pathway
MESH:D014927,Wolff-Parkinson-White Syndrome,"A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.","['Cardiovascular disease', 'Congenital abnormality']",Vesicle-mediated transport
MESH:D014947,Wounds and Injuries,"Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.",['Wounds and injuries'],Vitamin D (calciferol) metabolism
MESH:D014950,"Wounds, Penetrating",Wounds caused by objects penetrating the skin.,['Wounds and injuries'],VEGFR2 mediated cell proliferation
MESH:D014973,Xanthomatosis,"A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.",['Metabolic disease'],Transmembrane transport of small molecules
MESH:D014983,Xeroderma Pigmentosum,"A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.","['Cancer', 'Congenital abnormality', 'Genetic disease (inborn)', 'Metabolic disease', 'Skin disease']",Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template