| Description | SNP-disease association p-values curated from published GWAS |
| Measurement | genetic association by data aggregation from genome-wide association and other genetic association studies |
| Association | gene-disease associations by manual GWAS curation |
| Category | disease or phenotype associations |
| Resource | GWASdb |
| Citation(s) | |
| Last Updated | 2015 Apr 06 |
| Stats |
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| API | |
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Attribute Similarity
Gene Attribute
Gene Similarity
585 sets of genes associated with diseases in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
| Gene Set | Description |
|---|---|
| abdominal aortic aneurysm | An aortic aneurysm that is located_in the abdominal aorta. |
| acne | 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. |
| acquired immunodeficiency syndrome | A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. |
| acquired metabolic disease | A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. |
| acute leukemia | A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia. |
| acute lymphocytic leukemia | A lymphoblastic leukemia that is characterized by over production of lymphoblasts. |
| acute myeloid leukemia | 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. |
| adrenal gland disease | An endocrine system disease that is located_in the adrenal gland. |
| adult syndrome | An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. |
| agammaglobulinemia | A B cell deficiency that is caused by a reduction in all types of gamma globulins. |
| age related macular degeneration | A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. |
| agranulocytosis | |
| alcohol abuse | A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. |
| alcohol dependence | 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)|Disorders related to or resulting from abuse or mis-use of alcohol. |
| alcohol-induced mental disorder | |
| allergic contact dermatitis | A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. |
| allergic rhinitis | A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. |
| alopecia | A hypotrichosis that is characterized by a loss of hair from the head or body. |
| alopecia areata | A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. |
| alzheimer's disease | A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.|A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. |
| amphetamine abuse | A substance abuse that involves the recurring use of amphetamines despite negative consequences. |
| amyotrophic lateral sclerosis | A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) |
| anemia | A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. |
| angioedema | condition similar to urticarai but with swelling occuring in a lower layer of the dermis as well as in the subcutis |
| ankylosing spondylitis | A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. |
| anorexia nervosa | An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. |
| anthrax disease | A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. |
| antidepressant type abuse | A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. |
| antiphospholipid syndrome | A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). |
| anxiety disorder | A cognitive disorder that involves an excessive, irrational dread of everyday situations. |
| aortic aneurysm | An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. |
| aortic disease | An artery disease that is characterized by degeneration of the cells composing the aortic wall. |
| aortic valve disease | Updating out dated UMLS CUI. |
| arteriosclerosis | An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. |
| arteriosclerotic cardiovascular disease | |
| artery disease | A vascular disease that is located_in an artery. |
| arthritis | Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints. |
| asperger syndrome | An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. |
| asthma | A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety. |
| astrocytoma | A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|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 (MeSH).|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) |
| atherosclerosis | A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. |
| atopic dermatitis | A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. |
| attention deficit hyperactivity disorder | 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-IV) |
| auditory system disease | |
| autism spectrum disorder | A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. |
| autistic disorder | An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. |
| autoimmune disease of endocrine system | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. |
| autoimmune disease of gastrointestinal tract | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. |
| autoimmune disease of the nervous system | |
| autoimmune disease of urogenital tract | A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. |
| autonomic nervous system neoplasm | A peripheral nervous system neoplasm that is located_in the autonomic nervous system. |
| autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| autosomal genetic disease | A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes. |
| autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| azoospermia | A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. |
| b cell deficiency | A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. |
| b-cell lymphoma | A non-Hodgkin lymphoma that has_material_basis_in B cells. |
| bacterial gastritis | A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting. |
| bacterial infectious disease | A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. |
| barrett's esophagus | Metaplasia of the lower esophagus that is characterized by replacement of squamous epithelium with columnar epithelium, occurs especially as a result of chronic gastroesophageal reflux, and is associated with an increased risk for esophageal carcinoma. |
| basal cell carcinoma | 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). |
| basal ganglia disease | |
| behcet's disease | A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. |
| benign neoplasm | A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. |
| beta thalassemia | A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. |
| bile duct disease | |
| biliary atresia | A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. |
| biliary tract cancer | A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. |
| biliary tract disease | |
| bilirubin metabolic disorder | An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. |
| bipolar disorder | A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.|A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH). |
| bladder carcinoma | A carcinoma that forms in tissues of the bladder.|Bladder carcinoma is a carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.|A carcinoma that arises_from tissues of the bladder.|A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas. |
| blood coagulation disease | |
| blood platelet disease | |
| blood protein disease | |
| bone cancer | A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. |
| bone deterioration disease | A bone structure disease that results_in change or damage of structure located_in bone. |
| bone development disease | A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. |
| bone disease | A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. |
| bone inflammation disease | A bone disease that results_in inflammation of the located_in bone. |
| bone marrow cancer | A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. |
| bone marrow disease | |
| bone remodeling disease | A bone disease that results_in formation or resorption abnormalities located_in bone. |
| bone resorption disease | A bone remodeling disease that results in an abnormal decrease of bone density or mass. |
| bone structure disease | A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. |
| borderline personality disorder | A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. |
| brain cancer | A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. |
| brain disease | |
| brain glioma | A brain cancer that has_material_basis_in glial cells. |
| brain ischemia | |
| breast cancer | A thoracic cancer that originates in the mammary gland. |
| bronchial disease | A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. |
| brugada syndrome | A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. |
| bulimia nervosa | An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING. |
| bullous skin disease | An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. |
| calcium metabolism disease | |
| cancer | A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. |
| cannabis abuse | A substance abuse that involves the recurring use of cannabis despite negative consequences. |
| carbohydrate metabolism disease | An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. |
| carcinoma | A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. |
| cardiomyopathy | 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).|A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. |
| cardiovascular system disease | A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. |
| carotid artery disease | |
| cataract | Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)|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) |
| celiac disease | A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.|A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.|A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. |
| cell type cancer | A cancer that is classified by the type of cell from which it is derived. |
| central nervous system cancer | A primary or metastatic malignant neoplasm involving the brain or spinal cord. Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site.|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 (MeSH). |
| central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. |
| cerebral arterial disease | |
| cerebrovascular disease | An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. |
| cervical cancer | A female reproductive organ cancer that is located_in the cervix. |
| cholangitis | A bile duct disease that is an inflammation of the bile duct. |
| cholecystolithiasis | |
| cholestasis | |
| cholesterol embolism | A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. |
| cholesterol ester storage disease | |
| chromosomal disease | A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. |
| chronic fatigue syndrome | A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. |
| chronic kidney failure | |
| chronic lymphocytic leukemia | 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. |
| chronic myeloid leukemia | A myeloid leukemia that is characterized by over production of white blood cells. |
| chronic myeloproliferative disease | A myeloma that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. |
| chronic obstructive pulmonary disease | A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema.|A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.|A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. |
| cleft lip | |
| cocaine dependence | A drug dependence that is a psychological dependency on the regular use of cocaine. |
| cognitive disorder | A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. |
| 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. |
| collagen disease | |
| colon cancer | A colorectal cancer that is located_in the colon. |
| colonic disease | |
| colorectal cancer | A large intestine cancer that is located in the colon and/or located in the rectum. |
| commensal bacterial infectious disease | A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. |
| common variable immunodeficiency | A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). |
| communication disorder | A specific developmental disorder that involves specific developmental disorders of speech and language. |
| complement deficiency | A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. |
| conduct disorder | A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. |
| congenital heart disease | OMIM mapping confirmed by DO. [SN]. |
| congenital hemolytic anemia | |
| congestive heart failure | Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).|Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.|Heart failure involving the LEFT VENTRICLE.|Heart failure involving the RIGHT VENTRICLE.|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.|1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations.|Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs. |
| connective tissue cancer | A musculoskeletal system cancer that is located_in connective tissue. |
| connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
| contact dermatitis | |
| corneal disease | |
| corneal dystrophy | |
| coronary artery disease | Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. |
| coronary thrombosis | |
| cranial nerve disease | A neuropathy that is located_in one of the twelve cranial nerves. |
| craniosynostosis | A synostosis that results_in premature fusion located_in skull. |
| creutzfeldt-jakob disease | OMIM mapping confirmed by DO. [SN]. |
| crohn's disease | An intestinal disease that involves inflammation located_in intestine. |
| cystic fibrosis | An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. |
| degeneration of macula and posterior pole | |
| 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. |
| demyelinating disease | |
| dengue disease | A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding. |
| dental caries | Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification. |
| dermatitis | A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. |
| dermatomyositis | A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction.|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) |
| developmental disorder of mental health | A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. |
| diabetes mellitus | A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.|A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. |
| 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. |
| diarrhea | A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. |
| dilated cardiomyopathy | An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.|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.|decreased function of the heart associated with cardiac enlargement and congestive heart failure |
| disease | A disease is a disposition that describes states of disease associated with a particular sample and/or organism. |
| disease by infectious agent | A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. |
| disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| disease of cellular proliferation | A disease that is characterized by abnormally rapid cell division. |
| disease of mental health | A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. |
| disease of metabolism | A disease that involving errors in metabolic processes of building or degradation of molecules. |
| drug dependence | Disorders related to substance abuse, the side effects of a medication, or toxin exposure. |
| drug psychosis | |
| drug-induced hepatitis | |
| drug-induced mental disorder | |
| duodenal ulcer | Adding UMLS CUI for Curling Ulcer C0013295. |
| dysgammaglobulinemia | A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. |
| dyslexia | |
| dysostosis | A bone development disease that results_in defective ossification of located_in bone. |
| eating disorder | A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. |
| elephantiasis | |
| end stage renal failure | |
| endocrine gland cancer | An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. |
| endocrine system disease | A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. |
| endogenous depression | A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system. |
| endometrial cancer | A uterine cancer that is located_in tissues lining the uterus. |
| endometrial carcinoma | A endometrial cancer that is located_in the tissue lining the uterus. |
| endometriosis | The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. |
| eosinophilia | |
| eosinophilic esophagitis | An esophagitis characterized by inflammation involving eosinophils located_in esophagus. |
| epilepsy syndrome | A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. |
| epstein-barr virus hepatitis | A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. |
| esophageal cancer | A gastrointestinal system cancer that is located_in the esophagus. |
| esophageal carcinoma | Tumors or cancer of the ESOPHAGUS. |
| esophageal disease | A gastrointestinal system disease that is located_in the esophagus. |
| esophagitis | |
| esophagus squamous cell carcinoma | An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. |
| essential tremor | A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. |
| exanthem | |
| exfoliation syndrome | OMIM mapping confirmed by DO. [SN]. |
| eye and adnexa disease | A sensory system disease that is located_in the eye or the adnexa of the eye. |
| eye disease | An eye and adnexa disease that is located_in the eye. |
| facial dermatosis | |
| factor vii deficiency | |
| factor viii deficiency | An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. |
| familial atrial fibrillation | An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. |
| familial hypertriglyceridemia | A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency. |
| fatty liver disease | A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis. |
| female breast cancer | |
| female reproductive organ benign neoplasm | |
| female reproductive organ cancer | A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. |
| female reproductive system disease | A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. |
| focal epilepsy | An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. |
| frontotemporal dementia | A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. |
| gallbladder cancer | A biliary tract cancer that is located_in the gallbladder. |
| gallbladder disease | A gastrointestinal system disease that is located_in the gallbladder. |
| gastric adenocarcinoma | A stomach carcinoma that derives_from epithelial cells of glandular origin. |
| gastric outlet obstruction | |
| gastritis | A stomach disease that is an inflammation of the lining of the stomach. |
| gastrointestinal system benign neoplasm | An organ system benign neoplasm located_in gastrointestinal tract organs. |
| gastrointestinal system cancer | An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. |
| gastrointestinal system disease | A disease of anatomical entity that is located_in the gastrointestinal tract. |
| gaucher's disease | A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. |
| genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| gestational diabetes | |
| gilles de la tourette syndrome | A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. |
| glaucoma | An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)|Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. |
| glioblastoma multiforme | The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)|Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (MeSH).|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 (MeSH).|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. |
| glomerulonephritis | A nephritis that causes inflammation of the glomeruli located_in kidney. |
| glucose metabolism disease | |
| 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). |
| gonadal disease | An endocrine system disease that is located_in the gonads. |
| gonadal dysgenesis | A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. |
| gout | Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. |
| graves' disease | An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. |
| hair disease | An integumentary system disease that is located_in hair. |
| hand, foot and mouth disease | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. |
| head and neck cancer | An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. |
| heart conduction disease | A cardiovascular system disease that involves the heart's electrical conduction system. |
| heart disease | A cardiovascular system disease that involves the heart. |
| heart valve disease | A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). |
| hematologic cancer | An immune system cancer located_in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. |
| hematopoietic system disease | An immune system disease that has_material_basis_in hematopoietic cells. |
| hemoglobinopathy | |
| hemolytic anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| hemorrhagic disease | |
| hemorrhagic thrombocythemia | A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets. |
| hepatitis | |
| hepatitis b | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| hepatitis c | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. |
| hepatobiliary disease | A gastrointestinal system disease that is located_in the liver and/or biliary tract. |
| hepatocellular carcinoma | 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.|Tumors or cancer of the LIVER.|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. --2002|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. |
| heroin dependence | An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. |
| hirschsprung's disease | A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. |
| hodgkin's lymphoma | A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. |
| human immunodeficiency virus infectious disease | A viral infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands. |
| hyperostosis | A bone remodeling disease that results in an abnormal growth of located_in bone. |
| hyperparathyroidism | A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. |
| hypersensitivity reaction disease | An immune system disease that is caused by abnormal immune responses. |
| hypersensitivity reaction type ii disease | An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. |
| hypersensitivity reaction type iv disease | |
| 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. |
| hyperthyroidism | A thyroid gland disease that involves an over production of thyroid hormone. |
| hypertrophic cardiomyopathy | 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).|A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. |
| hypertrophic pyloric stenosis | A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. |
| hypospadias | A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. |
| hypothyroidism | A deficiency of thyroid hormone. |
| hypotrichosis | A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. |
| idiopathic interstitial pneumonia | A pneumonia located_in the lung parenchyma of unknown cause. |
| idiopathic pulmonary fibrosis | Chronic and progressive fibrosis of the lung parenchyma of unknown cause. |
| iga glomerulonephritis | 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. |
| ileal neoplasm | |
| immune system cancer | An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. |
| immune system disease | A disease of anatomical entity that is located_in the immune system. |
| immunoglobulin alpha deficiency | A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor. |
| impulse control disorder | A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. |
| inflammatory bowel disease | An intestinal disease characterized by inflammation located_in all parts of digestive tract. |
| inherited blood coagulation disease | |
| inherited metabolic disorder | A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inhertied enzyme abnormality. |
| inner ear disease | |
| integumentary system cancer | An organ system cancer that is located_in the skin, hair and nails. |
| integumentary system disease | A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. |
| interstitial lung disease | |
| intestinal benign neoplasm | A gastrointestinal system benign neoplasm that is located_in the intestine. |
| intestinal cancer | A gastrointestinal system cancer that is located_in the intestine. |
| intestinal disease | A gastrointestinal system disease that is located_in the intestine. |
| intracranial aneurysm | |
| intracranial arterial disease | |
| intrinsic cardiomyopathy | A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. |
| iris disease | |
| iron deficiency anemia | |
| iron metabolism disease | |
| 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. |
| ischemic bone disease | A bone disease that results_in an interruption of blood supply located_in bone. |
| juvenile rheumatoid arthritis | A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. |
| kawasaki disease | A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. |
| keratoconus | A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. |
| kidney cancer | A urinary system cancer that is located_in the kidney. |
| kidney disease | A disease affecting the kidneys |
| kidney failure | A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. |
| labyrinthine disease | |
| language disorder | A communication disorder that involves the processing of linguistic information. |
| large intestine cancer | An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. |
| larynx cancer | A respiratory system cancer that is located_in the larynx. |
| learning disability | A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. |
| lens disease | |
| 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. |
| leukemia | A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.|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)|A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. |
| leukocyte disease | |
| leukopenia | decrease in no. of leukocytes |
| lipid metabolism disorder | An inherited metabolic disorder that involves the creation and degradation of lipids. |
| lipid storage disease | A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. |
| liver cancer | A gastrointestinal system cancer that is located_in the liver. |
| liver carcinoma | A liver cancer that has_material_basis_in epithelial cells. |
| liver cirrhosis | |
| liver disease | Any disease or dysfunction of the liver and the intrahepatic bile ducts.|Pathological processes of the LIVER. |
| long qt syndrome | An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). |
| lower respiratory tract disease | A respiratory system disease which involves the lower respiratory tract. |
| lung adenocarcinoma | A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin. |
| lung cancer | A respiratory system cancer that is located_in the lung. |
| lung carcinoma | A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. |
| lung disease | A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. |
| lung small cell carcinoma | A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells. |
| lupus erythematosus | |
| lymph node disease | |
| lymphadenitis | |
| lymphatic system disease | An immune system disease that is located_in the lymphatic system. |
| lymphedema | |
| lymphoblastic leukemia | A leukemia that has_material_basis_in lymphoblasts (immature white blood cells). |
| lymphoma | A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.|A cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.|A general term for various neoplastic diseases of the lymphoid tissue.|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. |
| lymphopenia | A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. |
| lysosomal storage disease | An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. |
| macular degeneration | A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss. |
| major depressive disorder | An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. |
| malaria | A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.|Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa.|A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia.|An Aconoidasida infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. |
| male infertility | |
| male reproductive organ cancer | A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. |
| male reproductive system disease | A reproductive system disease that affects male reproductive organs. |
| malignant glioma | A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. |
| malignant mesothelioma | A cell type cancer that has_material_basis_in mesothelial tissue. |
| mantle cell lymphoma | A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. |
| megacolon | A colonic disease that is characterized by an abnormal dilation of the colon. |
| melanoma | A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. |
| membranous glomerulonephritis | |
| meningioma | A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. |
| mental depression | |
| metabolic syndrome x | OMIM mapping confirmed by DO. [SN]. |
| metal metabolism disorder | An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. |
| microcytic anemia | OMIM mapping confirmed by DO. [SN]. |
| middle ear disease | |
| migraine | A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. |
| migraine with aura | A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. |
| migraine without aura | A migraine that is characterized by migraine headaches that are not accompanied by an aura. |
| mineral metabolism disease | An acquired metabolic disease that is characterized by abnormal mineral metabolism. |
| monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). |
| mood disorder | A cognitive disorder that involves an excessive, irrational dread of everyday situations. |
| motor neuron disease | A neurodegenerative disease that is located_in the motor neurones. |
| mouth disease | A gastrointestinal system disease that is located_in the mouth. |
| movement disease | |
| moyamoya disease | A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. |
| multiple myeloma | A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)|A myeloma that is located_in the plasma cells in bone marrow.|A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY. |
| multiple sclerosis | A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. |
| muscle tissue disease | |
| muscular atrophy | |
| muscular disease | A musculoskeletal system disease that affects the muscles. |
| musculoskeletal system cancer | An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. |
| musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
| myasthenia gravis | OMIM mapping confirmed by DO. [SN]. |
| myelodysplastic myeloproliferative cancer | A bone marrow cancer that results_in the overproduction of white blood cells. |
| myelofibrosis | A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. |
| myeloid leukemia | A leukemia that is located_in myeloid tissue. |
| myeloma | A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body. |
| myocardial infarction | Xref MGI. |
| myofascial pain syndrome | |
| myopathy | A muscular disease in which the muscle fibers do not function resulting in muscular weakness. |
| 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. |
| myositis | An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue. |
| narcolepsy | A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. |
| nasal cavity disease | |
| nasopharynx carcinoma | A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. |
| nephritis | |
| nephroblastoma | A kidney cancer that affects the kidneys and typically located_in children. |
| nephrolithiasis | Formation of stones in the KIDNEY. |
| nephrosis | |
| nephrotic syndrome | Xref MGI. |
| nervous system cancer | An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system. |
| nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
| neuroblastoma | A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). |
| neurodegenerative disease | A central nervous system disease that results_in the progressive deterioration of function or structure of neurons. |
| neuromuscular disease | A neuropathy that affect the nerves that control the voluntary muscles. |
| neuromuscular junction disease | A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. |
| neuromyelitis optica | A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord. |
| neuropathy | A nervous system disease that is located in the nervous system. |
| neutropenia | |
| nicotine dependence | |
| non-hodgkin lymphoma | A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. |
| non-small cell lung carcinoma | 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. |
| normocytic anemia | |
| nose disease | |
| nutrition disease | An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. |
| nutritional deficiency disease | |
| obesity | An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). |
| 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. |
| obstructive lung disease | |
| open-angle glaucoma | A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. |
| opiate dependence | A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. |
| optic nerve disease | A cranial nerve disease that is located_in the optic nerve. |
| oral cavity cancer | A gastrointestinal system cancer that is located_in the oral cavity. |
| organ system benign neoplasm | A benign neoplasm that is classified by the organ system from which it is arising from. |
| organ system cancer | A cancer that is classified based on the organ it starts in. |
| orofacial cleft | |
| 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. |
| osteonecrosis | Death of a bone or part of a bone, either atraumatic or posttraumatic. |
| osteoporosis | Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. |
| 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)|A malignant mesenchymal tumor arising from the bone.|A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. |
| otitis media | A otitis which involves inflammation of the middle ear. |
| otosclerosis | Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. |
| ovarian cancer | A female reproductive organ cancer that is located_in the ovary. |
| ovarian disease | |
| overnutrition | Updated outdated UMLS CUI. |
| paget's disease of bone | A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. |
| pancreas disease | An endocrine system disease that is located_in the pancreas. |
| pancreatic cancer | An endocrine gland cancer located_in the pancreas. |
| pancreatitis | Inflammation of the pancreas.|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. |
| panic disorder | An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. |
| papillary thyroid carcinoma | A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer. |
| parasitic infectious disease | A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. |
| parasitic protozoa infectious disease | A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. |
| parathyroid gland disease | An endocrine system disease that is located_in the parathyroid gland. |
| parkinson's disease | A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)|A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions. |
| pathological gambling | An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. |
| pemphigus | |
| peptic ulcer disease | |
| periodontal disease | |
| 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) |
| peripartum cardiomyopathy | |
| peripheral nervous system neoplasm | A nervous system cancer that is located_in the peripheral nervous system. |
| peripheral neuropathy | A neuropathy that is located_in nerves of the peripheral nervous system. |
| peripheral primitive neuroectodermal tumor | A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm. |
| peripheral vascular disease | A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. |
| personality disorder | A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. |
| pervasive developmental disorder | A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. |
| phacogenic glaucoma | |
| pharynx cancer | A gastrointestinal system cancer that is located_in the pharyx. |
| phosphorus metabolism disease | |
| physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| pigmented basal cell carcinoma | |
| placenta disease | A uterine disease that is located_in the placenta. |
| plantar fascial fibromatosis | |
| pneumonia | A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. |
| podoconiosis | |
| 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. |
| polycythemia | Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. |
| polycythemia vera | |
| post-traumatic stress disorder | A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event.|A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event (MeSH).|An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.|An anxiety disease which results from a traumatic experience that results in psychological trauma. |
| pre-eclampsia | A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. |
| premature ovarian failure | An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. |
| primary bacterial infectious disease | A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. |
| primary biliary cirrhosis | A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. |
| primary immunodeficiency disease | An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. |
| prion disease | 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) |
| progressive supranuclear palsy | A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. |
| prolapse of female genital organ | |
| prostate cancer | A male reproductive organ cancer that is located_in the prostate. |
| prostate disease | |
| prostatic hypertrophy | |
| protein c deficiency | |
| 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. |
| psoriatic arthritis | A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis. |
| psychotic disorder | A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. |
| pulmonary embolism | An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. |
| pulmonary emphysema | |
| pulmonary systemic sclerosis | |
| pyloric stenosis | |
| reading disorder | A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. |
| rectal disease | |
| recurrent hypersomnia | A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. |
| refractive error | |
| renal artery disease | |
| renal carcinoma | A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). |
| renal cell carcinoma | A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.|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. |
| reproductive organ benign neoplasm | An organ system benign neoplasm that is located_in reproductive system organs. |
| reproductive organ cancer | An organ system cancer that is manifested in the reproductive organs. |
| reproductive system disease | A disease of anatomical entity that is located_in reproductive system organs. |
| respiratory system cancer | An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. |
| respiratory system disease | A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. |
| restless legs syndrome | A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. |
| retinal degeneration | |
| retinal detachment | OMIM mapping confirmed by DO. [SN]. |
| retinal disease | An eye disease that is located_in the retina. |
| retinal vascular disease | |
| rheumatic disease | |
| rheumatoid arthritis | An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. |
| rhinitis | A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. |
| ritter's disease | A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. |
| sarcoidosis | A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. |
| schizoaffective disorder | A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. |
| schizophrenia | A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.|A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior. |
| scleroderma | A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. |
| sclerosing cholangitis | |
| sebaceous gland disease | A skin disease that is located_in the sebaceous gland. |
| selective iga deficiency disease | A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. |
| selective ige deficiency disease | |
| selective igg deficiency disease | |
| selective immunoglobulin deficiency disease | |
| sensory peripheral neuropathy | A peripheral neuropathy that involves damage to nerves of the peripheral nervous system. |
| sensory system disease | A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). |
| sexual disorder | A disease of mental health that involves the impairment in normal sexual functioning. |
| sexual dysfunction | |
| sick sinus syndrome | Xref MGI. |
| sickle cell anemia | OMIM mapping confirmed by DO. [LS]. |
| sinoatrial node disease | A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. |
| sjogren's syndrome | A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. |
| skin cancer | An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. |
| skin carcinoma | A skin cancer that is located_in tissues of the skin and develops from epithelial cells. |
| skin disease | An integumentary system disease that is located_in skin. |
| skin melanoma | A skin cancer that has_material_basis_in melanocytes. |
| sleep disorder | A disease of mental health that involves disruption of sleep patterns. |
| small intestine neoplasm | |
| smallpox | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk. |
| specific developmental disorder | A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. |
| speech disorder | A communication disorder that involves difficulty with the act of speech production. |
| sphingolipidosis | |
| squamous cell carcinoma | A carcinoma that derives_from squamous epithelial cells. |
| stevens-johnson syndrome | |
| stomach cancer | A gastrointestinal system cancer that is located_in the stomach. |
| stomach carcinoma | A stomach cancer that is located_in the stomach. |
| stomach disease | A gastrointestinal system disease that is located_in the stomach. |
| substance abuse | A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. |
| substance dependence | A substance-related disorder that involves the continued use of alcohol or other drugs despite despite problems related to use of the substance. |
| substance-induced psychosis | |
| substance-related disorder | A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. |
| syndrome | A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality. |
| synostosis | A dysostosis that results_in abnormal fusing of adjacent bones. |
| synucleinopathy | A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. |
| systemic lupus erythematosus | 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. |
| systemic scleroderma | A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.|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. |
| tauopathy | Tauopathies are heterogeneous neurodegenerative diseases characterized by the deposition of abnormal tau protein in the brain. |
| teeth hard tissue disease | |
| temporal lobe epilepsy | |
| testicular cancer | A male reproductive system cancer that is located_in the testicles. |
| testicular germ cell cancer | A testicular cancer that has_material_basis_in germ cells. |
| tetralogy of fallot | OMIM mapping confirmed by DO. [LS]. |
| thalassemia | OMIM mapping confirmed by DO. [LS]. |
| thoracic aortic aneurysm | An aortic aneurysm that is located_in the thoracic aorta. |
| thoracic cancer | An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. |
| thrombocytopenia | A blood platelet disease characterized by low a platelet count in the blood. |
| thrombophilia | OMIM mapping confirmed by DO. [LS]. |
| thyroid cancer | An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage. |
| thyroid carcinoma | |
| thyroid gland disease | An endocrine system disease that is located_in the thyroid. |
| thyroid malformation | |
| thyroiditis | Updating to more specific UMLS_CUI from C0029495 to C0040147. |
| tic disorder | A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity. |
| tooth agenesis | A tooth disease characterized by failure to develop on or more missing teeth. |
| tooth disease | |
| tuberculosis | A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. |
| type 1 diabetes mellitus | A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas. |
| type 2 diabetes mellitus | A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. |
| ulcerative colitis | A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. |
| upper respiratory tract disease | A respiratory system disease which involves the upper respiratory tract. |
| urinary bladder cancer | An urinary system cancer that results_in malignant growth located_in the urinary bladder. |
| urinary system cancer | An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. |
| urinary system disease | A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. |
| uterine benign neoplasm | |
| uterine cancer | A female reproductive organ cancer that is located_in the uterus. |
| uterine disease | A female reproductive system disease that is located_in the uterus. |
| uterine fibroid | 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.|A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.|An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. |
| uveal disease | |
| vascular dementia | A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. |
| vascular disease | A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. |
| vascular hemostatic disease | |
| vasculitis | A vascular disease that is characterized by inflammation of the blood vessels. |
| vein disease | A vascular disease that is located_in a vein. |
| viral hepatitis | A hepatitis that involves viral infection causing inflammation of the liver. |
| viral infectious disease | A disease by infectious agent that results_in infection, has_material_basis_in Viruses. |
| viral pneumonia | A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. |
| visual cortex disease | |
| visual pathway disease | |
| vitamin b12 deficiency | A vitamin metabolic disorder that results from low blood levels of vitamin B12. |
| vitamin metabolic disorder | An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. |
| vitiligo | A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached. |
| von willebrand's disease | A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. |
| waterhouse-friderichsen syndrome | An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. |
| wegener's granulomatosis | An autoimmune disease that is a vasculitis that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. |
| withdrawal disorder | A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. |
| x-linked disease | A monogenic disease that has_material_basis_in muations in genes on the X chromosome. |
