| condition_preferred | | | |
| 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 microliter 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. | | |
| acute disseminated encephalomyelitis | An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. | | |
| Acute Respiratory Distress Syndrome | Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition. | | |
| Addison's disease | An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. | | HP:0008207 |
| Aging | The process of change in the structure and function of an organism that occurs with the passage of time. | | |
| alcohol dependence | A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. (UMLS CUI:C0001973) | | |
| alcohol use disorder | A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. | | |
| allergic hypersensitivity disease | An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. | | HP:0012393 |
| 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. | | HP:0003193 |
| alopecia areata | An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. | | HP:0002232 |
| Alzheimer's disease | A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting 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. | | HP:0002511 |
| anemia | A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. | | HP:0001903 |
| Angina | Paroxysms of chest pain due to reduced oxygen to the heart. (UMLS CUI:C0002962) | | |
| 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. | | |
| antiphospholipid syndrome | An autoimmune 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). | | |
| antisynthetase syndrome | An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. | | |
| anxiety disorder | A cognitive disorder that involves an excessive, irrational dread of everyday situations. | | |
| arrhythmia | Arrhythmia is a cardiovascular system symptom consisting of an alteration in rhythm of the heartbeat either in time or force. | | |
| aspiration pneumonia | A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. (UMLS CUI:C0032290) | | |
| asthma | 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. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. | | HP:0002099 |
| atopic dermatitis | An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. | | HP:0001047 |
| atrial fibrillation | A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. (UMLS CUI:C0004238) | | |
| autoimmune cardiomyopathy | An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. | | |
| autoimmune cholangitis | An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. | | |
| autoimmune 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. | | |
| autoimmune disease of endocrine system | An autoimmune 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 musculoskeletal system | An autoimmune 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 musculoskeletal system. | | |
| autoimmune glomerulonephritis | An autoimmune disease of urogenital tract that is located_in the renal glomerulus. | | |
| autoimmune hemolytic anemia | An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. | | HP:0001890 |
| autoimmune hepatitis | An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. | | |
| autoimmune peripheral neuropathy | An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. | | |
| autoimmune thrombocytopenic purpura | A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. | | HP:0001973 |
| avian influenza | An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. | | |
| Bariatric Surgery | Surgery performed in morbidly obese patients to help promote weight loss. The procedure aims at the reduction of the stomach size and it is usually achieved either with the implantation of a medical device or the removal of part of the stomach. | | |
| Bilateral pleural effusion (disorder) | Bilateral pleural effusion (disorder) (UMLS CUI:C0747635) | | |
| biliary atresia | A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. | | HP:0005912 |
| blood coagulation disease | A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. | | HP:0001928 |
| Blood Transfusion | The injection of whole blood or a blood component directly into the bloodstream. | | |
| 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. | | |
| brain glioblastoma multiforme | A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems. | | |
| brain glioma | A brain cancer that has_material_basis_in glial cells. | | |
| breast cancer | A thoracic cancer that originates in the mammary gland. | | HP:0003002 |
| bronchiectasis | A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. (UMLS CUI:C0006267) | | |
| bronchiolitis | A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. | | HP:0011950 |
| bronchitis | A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. | | HP:0012387 |
| Bronchopulmonary Dysplasia | Chronic lung disease requiring treatment with oxygen for at least 28 days and with a spectrum of severity from mild to severe, that predominantly affects premature infants. While the radiologic pattern is typical in the closer to term patient, the pattern in the small preterm infant is very non-discrete and variable. | | |
| bullous skin disease | A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. | | |
| cancer | A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. | | HP:0002664 |
| cardiac arrest | A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. | | HP:0001695 |
| cardiomyopathy | A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. | | HP:0001638 |
| 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. | | HP:0001626 |
| celiac disease | An autoimmune disease of gastrointestinal tract 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. | | HP:0002608 |
| Cephalohematoma | A subperiosteal hemorrhage limited to the surface of one cranial bone, a usually benign condition seen in the newborn as a result of bone trauma. | | |
| cerebral palsy | A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. | | HP:0100021 |
| cerebrovascular disease | An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain. | | |
| chickenpox | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. | | |
| chikungunya | A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. | | |
| childhood type dermatomyositis | childhood type dermatomyositis | | |
| chlamydia | A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. | | |
| choledochal cyst | choledochal cyst | | HP:0100890 |
| cholera | A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. | | |
| chorioamnionitis | A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. | | |
| chromosomal disease | A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. | | |
| chronic disease course | A disease course that (a) does not terminate in a return to normal homeostasis and (b) would, absent intervention, fall within abnormal homeostatic range. | | |
| chronic kidney disease | A kidney failure that is characterized by the gradual loss of kidney function. (UMLS CUI:C1561643) | | |
| Chronic Liver Disease | Hepatic necrosis, inflammation, or scarring due to any cause that persists for more than 6 months. Manifestations may include signs and symptoms of cholestasis, portal hypertension, and/or abnormal liver function tests. (UMLS CUI:C0341439) | | |
| chronic obstructive pulmonary disease | An obstructive lung disease that is characterized by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. | | HP:0006510 |
| chronic plaque psoriasis | Chronic plaque psoriasis is the most common presentation of psoriasis. It presents as small to large, well-demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body. | | HP:0003765 |
| Chronic Sinusitis | Inflammation of the paranasal sinuses that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. (UMLS CUI:C0149516) | | |
| chronic spontaneous urticaria | A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. | | |
| cirrhosis | liver cirrhosis | | |
| clinically isolated syndrome | Clinically isolated syndrome (CIS) is one of the MS disease courses. CIS refers to a first episode of neurologic symptoms that lasts at least 24 hours and is caused by inflammation or demyelination (loss of the myelin that covers the nerve cells) in the central nervous system (CNS). | | |
| Clostridium difficile colitis | A colitis characterized by an overgrowth of Clostridium difficile bacteria. | | |
| colitis | An inflammatory bowel disease that involves inflammation located_in colon. | | HP:0002583 |
| colorectal cancer | A large intestine cancer that is located_in the colon and/or located_in the rectum. | | HP:0100834 |
| common variable immunodeficiency | An agammaglobulinemia 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. | | |
| congenital adrenal insufficiency | An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. | | |
| congenital heart disease | congenital heart disease | | HP:0001627 |
| congenital syphilis | A syphilis that results_in a multisystem infection in the fetus via the placenta. | | |
| congestive heart failure | A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. | | HP:0001635 |
| conjunctivitis | A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. | | HP:0000509 |
| connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. | | |
| coronary artery disease | An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. | | HP:0001677 |
| COVID-19 | A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. | | |
| COVID-19-Associated Acute Respiratory Distress Syndrome | Acute respiratory distress syndrome caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) | | |
| cranial nerve disease | A neuropathy that is located_in one of the twelve cranial nerves. | | HP:0006824 |
| critical COVID-19 | http://purl.obolibrary.org/obo/DOID_0081012;https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 | | |
| Crohn's disease | An intestinal disease that involves inflammation located_in intestine. | | HP:0100280 |
| cutaneous lupus erythematosus | A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. | | |
| cystic fibrosis | A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs. | | |
| cystic kidney disease | Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large. | | HP:0000107 |
| cystinosis | A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. | | |
| Cytogenetically Normal Acute Myeloid Leukemia | Acute myeloid leukemia not associated with cytogenetic abnormalities. | | HP:0004808 |
| Cytomegaloviral Infection | A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies. | | |
| dementia | A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. | | |
| Dementia with psychosis | Dementia with psychosis (UMLS CUI:C0543884) | | |
| 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. | | |
| dengue hemorrhagic fever | A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. | | |
| Dependence on peritoneal dialysis due to end stage renal disease | Dependence on peritoneal dialysis due to end stage renal disease (UMLS CUI:C1997877) | | |
| dermatomyositis | A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. | | |
| dermatophytosis | A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. | | |
| 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 glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. | | HP:0000819 |
| diphtheria | A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. | | |
| disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that 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 metabolism | A disease that involving errors in metabolic processes of building or degradation of molecules. | | |
| diverticulitis | An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. (UMLS CUI:C0012813) | | |
| Dyspnea with Mild Physical Activity | Dyspnea experienced during minimal exertion. | | |
| Dyspnea with Moderate Physical Activity | Dyspnea experienced during moderate exertion. | | |
| Ebola hemorrhagic fever | A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. | | |
| EBV Infection | An infection that is caused by Epstein-Barr virus. | | |
| EBV-Related Post-Transplant Lymphoproliferative Disorder | A lymphoproliferative disorder that develops following organ transplantation and is associated with Epstein-Barr virus infection. | | |
| eczema herpeticum | A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. | | |
| eczema vaccinatum | Eczema vaccinatum: A common concern with smallpox vaccination involving the implantation of the vaccinia virus from the vaccination into the skin of a person with eczema (atopic dermatitis), sometimes with a fatal outcome. Disrupted skin permits viral implantation. Once the virus is implanted, it spreads from cell to cell producing extensive lesions. The skin lesions appear identical to a primary smallpox vaccination. Confluent lesions often cover the entire face, the crook of the elbow in the antecubital fossa, and behind the knee in the popliteal fossa. Viremia (viral spread through the bloodstream) may also occur allowing for the spread of virus to other parts of the body, including skin that is not affected by eczema. Bacterial and fungal invas | | |
| egg allergy | A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. | | |
| encephalitis | A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. | | HP:0002383 |
| end stage renal disease | A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease. | | |
| endocarditis | A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. | | HP:0100584 |
| eosinophilic esophagitis | An esophagitis characterized by inflammation involving eosinophils located_in esophagus. | | |
| epidermolysis bullosa | A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin. | | |
| epilepsy | A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. | | HP:0001250 |
| Escherichia Coli Infection | Infection with the organism Escherichia Coli. | | HP:0002740 |
| esophageal atresia | esophageal atresia | | HP:0002032 |
| esophageal atresia/tracheoesophageal fistula | A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. | | |
| Failure to Thrive | A clinical finding indicating less than normal growth in an infant or child, or a state of global decline in an adult. (UMLS CUI:C0015544) | | |
| Family Medical History | A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions. | | |
| fibromyalgia | fibromyalgia | | |
| focal segmental glomerulosclerosis | Focal segmental glomerulosclerosis (FSGS) is a disease in which scar tissue develops on the parts of the kidneys that filter waste from the blood (glomeruli). FSGS can be caused by a variety of conditions. | | HP:0000097 |
| food allergy | A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. | | |
| gastroesophageal reflux disease | gastroesophageal reflux disease | | HP:0002020 |
| glioblastoma | A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. | | HP:0012174 |
| Goodpasture syndrome | An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. | | |
| granulomatosis with polyangiitis | An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and 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. | | |
| Graves' disease | An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. | | HP:0100647 |
| Guillain-Barre syndrome | An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. | | |
| haemophilus meningitis | A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. | | |
| healthy | Having no significant health-related issues. | | |
| Heart Failure | Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. (UMLS CUI:C0018801) | | |
| Heart Transplantation | A surgical procedure in which a damaged heart is removed and replaced by another heart from a suitable donor. | | |
| Helicobacter Pylori Infection | A bacterial infection of the stomach, caused by Helicobacter pylori. It is associated with the development of peptic ulcer and mucosa-associated lymphoid tissue lymphoma. | | HP:0005202 |
| hematologic cancer | An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. | | HP:0004377 |
| hematopoietic system disease | A disease of anatomical entity that has_material_basis_in hematopoietic cells. | | HP:0001871 |
| hemiplegia | A central nervous system disease that is characterized by the complete paralysis of half of the body. | | HP:0002301 |
| hemoglobinopathy | hemoglobinopathy | | |
| hemolytic-uremic syndrome | A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. | | HP:0005575 |
| hepatitis | (UMLS CUI:C0267797) | | |
| hepatitis A | A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. | | |
| hepatitis 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. | | |
| herpes zoster | A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. | | |
| human cytomegalovirus infection | A viral infectious disease that has_material_basis_in Human betaherpesvirus 5. | | |
| 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. | | |
| hydronephrosis | hydronephrosis | | HP:0000126 |
| hypertension | An artery disease characterized by chronic elevated blood pressure in the arteries. | | HP:0000822 |
| Hypertension not adequately controlled | Hypertension not adequately controlled (UMLS CUI:C0857354) | | |
| hypoglycemia | A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. | | HP:0001943 |
| Hyponatremia | Lower than normal levels of sodium in the circulating blood. (UMLS CUI:C0020625) | | |
| hypothyroidism | A thyroid gland disease which involves an underproduction of thyroid hormone. | | HP:0000821 |
| hysterectomy history | A gynecologic surgery history in which a woman has had a hysterectomy. | | |
| ichthyosis | A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. | | HP:0008064 |
| idiopathic pulmonary fibrosis | A pulmonary fibrosis that is characterized by scarring of the lung. | | |
| Immunocompromised | A loss of any arm of immune functions, resulting in potential or actual increase in infections. This state may be reached secondary to specific genetic lesions, syndromes with unidentified or polygenic causes, acquired deficits from other disease states, or as result of therapy for other diseases or conditions. (UMLS CUI:C2186379) | | |
| Immunologic Tolerance | An innate tolerance that prevents the body from attacking native proteins and tissue. | | |
| Immunosuppressive Disorder | Immunosuppressive Disorder A disorder in which immune function is suppressed. | | |
| inflammatory bowel disease | An intestinal disease characterized by inflammation located in all parts of digestive tract. | | |
| Inflammatory Disorder | An infectious or non infectious disorder characterized by signs and symptoms derived from focal or extensive tissue infiltration by acute (e.g., polymorphonuclear) or chronic (e.g., lymphocytic-plasmacytic) inflammatory cells. Representative examples of infectious disorders include viral infections, bacterial infections, and parasitic infections. Representative examples of non-infectious inflammatory disorders include inflammatory bowel disease and inflammatory polyps | | |
| influenza | A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. | | |
| interstitial lung disease | A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. | | HP:0006530 |
| interstitial nephritis | Interstitial nephritis is a kidney disorder. The kidneys filter waste and extra fluid from the body. When you have interstitial nephritis, the spaces between tubules (small tubes) inside the kidney become inflamed. This reduces the kidneys' ability to filter properly. | | HP:0001970 |
| intestinal infectious disease | An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites. | | |
| Irritable bowel syndrome with diarrhea | Irritable bowel syndrome with diarrhea (UMLS CUI:C0348898) | | |
| 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. | | |
| keratoconjunctivitis sicca | Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. | | HP:0001097 |
| kidney cortex necrosis | A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury. | | |
| kidney disease | A urinary system disease that is located in the kidney. | | |
| kidney failure | A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. | | HP:0000083 |
| Kidney Transplantation | The transfer of a healthy kidney from a donor to a patient for the purpose of replacing one of the failing kidneys of the patient. | | |
| Lambert-Eaton myasthenic syndrome | A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. | | |
| laryngomalacia | A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. | | |
| leukemia | A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. | | HP:0001909 |
| lichen planus | A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. | | |
| Listeria meningitis | A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection. | | |
| liver cancer | A hepatobiliary system cancer that is located_in the liver. | | HP:0002896 |
| liver disease | liver disease | | HP:0001392 |
| Liver Transplantation | The transfer of a healthy liver allograft from a donor to a patient. | | |
| localized scleroderma | localized scleroderma | | HP:0100324 |
| lung adenocarcinoma | A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin. | | HP:0030078 |
| lung cancer | A respiratory system cancer that is located_in the lung. | | |
| 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. | | HP:0002088 |
| Lung Transplantation | The surgical transfer of one or both lungs from one individual to another. | | |
| lupus erythematosus | An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. (UMLS CUI:C0409974) | | |
| lupus nephritis | A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus. | | |
| Lyme disease | A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. | | |
| lymphocytic choriomeningitis | A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting. | | |
| lymphoma | A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. | | HP:0002665 |
| malaria | A parasitic protozoa 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. | | |
| Malignant Gastric Neoplasm | A primary or metastatic malignant neoplasm involving the stomach. (UMLS CUI:C0024623) | | |
| Malignant Lung Neoplasm | A primary or metastatic malignant neoplasm involving the lung. (UMLS CUI:C0242379) | | |
| measles | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. | | |
| meningitis | A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. | | HP:0001287 |
| meningococcal meningitis | A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. | | |
| meningoencephalitis | A central nervous system disease that involves encephalitis which occurs along with meningitis. | | |
| mental depression | mental depression | | |
| MERS-CoV | Middle East respiratory syndrome coronavirus | | |
| Metabolic Syndrome | A combination of medical conditions that when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, dyslipidemia, impaired glucose tolerance, and insulin resistance. | | |
| milk allergy | A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. | | |
| miscarriage | Miscarriage is a reproductive system symptom characterized by the spontaneous expulsion of a human fetus before it is viable and especially between the 12th and 28th weeks of gestation. | | |
| mitral valve insufficiency | (UMLS CUI:C0026266) | | |
| mixed connective tissue disease | A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. | | |
| molluscum contagiosum | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. | | |
| multiple myeloma | A myeloid neoplasm that is located_in the plasma cells in bone marrow. (UMLS CUI:C0026764) | | |
| Multiple Pulmonary Nodules | Multiple, small, round or oval, benign or malignant growths in the lung(s), which can be due to infectious, inflammatory, or neoplastic processes. (UMLS CUI:C0748164) | | |
| 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. | | |
| mumps | A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. | | |
| muscle invasive bladder cancer | Muscle invasive bladder cancer (MIBC) is a cancer that spreads into the detrusor muscle of the bladder. The detrusor muscle is the thick muscle deep in the bladder wall. This cancer is more likely to spread to other parts of the body. About 1 out of 4 people who get bladder cancer in the United States have the muscle invasive kind. | | HP:0009725 |
| muscular dystrophy | A myopathy is characterized by progressive skeletal muscle weakness degeneration. | | HP:0003560 |
| musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. | | |
| myasthenia gravis | An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath. | | |
| myocardial infarction | A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. | | HP:0001658 |
| myocarditis | An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. | | HP:0012819 |
| narcolepsy | A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. | | HP:0030050 |
| neonatal candidiasis | A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. | | |
| Neonatal Hypoxic Ischemic Encephalopathy | Injury to the central nervous system in the newborn period that occurs when there is insufficient delivery of oxygen to all or part of the brain. | | |
| neoplastic, metastatic | A disposition inhering in a tumour by virtue of the bearer's disposition to spread and invade distant tissues. | | |
| nephrolithiasis | A kidney disease characterized by the formation of stoney concentrations in the kidneys. | | |
| Nephrostomy tube (physical object) | Nephrostomy tube (physical object) (UMLS CUI:C0184149) | | |
| nephrotic syndrome | A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. | | HP:0000100 |
| nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. | | |
| neurofibromatosis 1 | A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2. | | |
| neuromuscular disease | A neuropathy that affect the nerves that control the voluntary muscles. (UMLS CUI:C0027868) | | |
| neuromyelitis optica | A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). | | |
| Newcastle disease | A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. | | |
| non-severe COVID-19 | http://purl.obolibrary.org/obo/DOID_0081014;https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 | | |
| Not Applicable | Determination of a value is not relevant in the current context | | |
| Not Specified | Not stated explicitly or in detail | | |
| nutritional deficiency disease | A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. | | |
| obesity | An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. | | HP:0001513 |
| optic nerve glioma | optic nerve glioma | | HP:0009734 |
| optic neuritis | An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. | | HP:0100653 |
| osteoarthritis | An arthritis that has_material_basis_in worn out cartilage located_in joint. | | HP:0002758 |
| Pancreas Transplantation | The surgical transfer of a pancreas from one individual to another. | | |
| pancreatic cancer | An endocrine gland cancer located_in the pancreas. (UMLS CUI:C0235974) | | |
| Pancreatic Islet Transplantation | The surgical transfer of pancreatic islet cells from one individual to another. | | |
| panniculitis | A skin disease that is characterized by inflammation of subcutaneous adipose tissue. | | HP:0012490 |
| paraplegia | paraplegia | | HP:0010550 |
| Parkinson's disease | A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. | | |
| Partial Small Intestine Resection | Surgical removal of part of the small intestine. (UMLS CUI:C0192616) | | |
| peanut allergy | A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. | | |
| Pediatric acute-onset neuropsychiatric syndrome | PANS pediatric acute-onset neuropsychiatric syndrome | | C000631768 |
| pemphigus vulgaris | A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. | | |
| peptic ulcer disease | peptic ulcer disease | | HP:0004398 |
| Perennial Allergic Rhinitis | Allergic rhinitis caused by indoor allergens and lasting year round. | | HP:0003193 |
| perinatal necrotizing enterocolitis | perinatal necrotizing enterocolitis | | |
| peripheral vascular disease | A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. | | |
| Peritoneal Dialysis | A form of dialysis that uses the peritoneum as a membrane across which the infused diasylate exchanges nutrients for waste products that are removed when the fluid is exchanged. (UMLS CUI:C0031139) | | |
| pernicious anemia | A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. | | |
| pertussis | A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). | | |
| 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. | | |
| pharyngitis | An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. | | |
| physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. | | |
| pituitary gland disease | An endocrine system disease that is located_in the pituitary gland. | | |
| placenta disease | A uterine disease that is located_in the placenta. | | |
| plague | A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. | | |
| Plasmodium falciparum malaria | A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. | | |
| Plasmodium vivax malaria | A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. | | |
| Pleural effusions, chronic | Pleural effusions, chronic (UMLS CUI:C0747636) | | |
| pneumonia | A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). | | |
| polymyalgia rheumatica | A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. | | |
| polymyositis | A myositis that is characterized by muscle weakness affecting both sides of your body. | | |
| portal vein thrombosis | A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. (UMLS CUI:C0155773) | | |
| Post-Acute Sequelae of COVID-19 | A constellation of signs and symptoms that can persist for weeks or months after acute infection with SARS-CoV-2, or appear weeks after infection. This condition may be characterized by fatigue, shortness of breath, difficulty focusing or concentrating ("brain fog"), sleep disorders, fevers, gastrointestinal symptoms, anxiety, and depression. aka Long-COVID-19. ACC/AHA Definition: Symptoms that significantly impair quality of life, which started during or after probable or confirmed acute COVID-19 and have persisted 4 wk to 3 mo after the initial diagnosis of COVID-19 | | |
| Post-Transplant Lymphoproliferative Disorder | Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. | | |
| post-traumatic stress disorder | An anxiety disorder which results from a traumatic experience that results in psychological trauma. | | |
| postinfectious encephalitis | An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occuring two to three weeks after the initial infection. | | |
| 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. | | HP:0100602 |
| Pregnancy | The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth. | | |
| Prenatal maternal abnormality | Prenatal maternal abnormality | | HP:0002686 |
| Preterm Birth | Birth when a fetus is less than 37 weeks and 0 days gestational age. | | |
| Previous | Occurring prior to something else. | | |
| primary biliary cholangitis | A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. | | HP:0002613 |
| 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. | | HP:0002721 |
| primary sclerosing cholangitis | A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. | | |
| Primary Sjogren Syndrome | Sjogren syndrome without a concomitant systemic autoimmune disorder. | | |
| proctitis | A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding. | | |
| psoriasis | A skin disease that is characterized by patches of thick red skin and silvery scales. | | HP:0003765 |
| psoriatic arthritis | An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis. | | |
| Psychiatric Disorder | A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. (UMLS CUI:C1658764) | | |
| psychotic disorder | A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. | | |
| pulmonary hypertension | A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. | | HP:0002092 |
| pustulosis of palm and sole | pustulosis of palm and sole | | HP:0100847 |
| Radiation Exposure | http://purl.obolibrary.org/obo/NCIT_C61398 | | |
| Radiation Sickness Syndrome | The complex of symptoms characterizing the disease known as radiation injury, resulting from excessive exposure (greater than 200 rads or 2 gray) of the whole body (or large part) to ionizing radiation. The earliest of these symptoms are nausea, fatigue, vomiting, and diarrhea, which may be followed by epilation, hemorrhage, inflammation of the mouth and throat, and general loss of energy. In severe cases, where the radiation exposure has been approximately 1000 Rad (10 gray) or more, death may occur within two to four weeks. Those who survive six weeks after the receipt of a single large dose of radiation to the whole body may generally be expected to recover. (U.S. Nuclear Regulatory Commission). | | |
| Raynaud disease | Raynaud disease | | HP:0030880 |
| recent | A quality of a process which occurs near to or not long before the present. | | |
| Recurrent pregnancy loss | A medical condition characterized by the loss of two or more pregnancies before the fetus reaches viability. The exact timing for what constitutes "viability" may vary, but losses are often counted before 20 weeks of gestation. Recurrent pregnancy loss is a subset of miscarriage, which is more broadly defined as the loss of a pregnancy before viability. | | |
| Recurrent urinary tract infections | Repeated infections of the urinary tract. (UMLS CUI:C0262655) | | HP:0000010 |
| relapse | A disease stage which is preceded by a remission and characterized by the return of a manifestation of a disease. | | |
| relapsing polychondritis | A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body. | | |
| renal artery obstruction | renal artery obstruction | | HP:0001920 |
| Reproductive Surgery | A surgical procedure in the field of reproductive medicine. | | |
| respiratory syncytial virus infectious disease | A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. | | |
| Rheumatic Disease | A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. | | |
| rheumatic heart disease | A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords. | | |
| rheumatoid arthritis | An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. | | HP:0001370 |
| 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. | | HP:0012384 |
| Rhinovirus Infection | An infectious process caused by rhinovirus. The virus usually causes upper respiratory infections, but can infect the lower tract as well. | | |
| rubella | A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. | | |
| salmonellosis | A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has sypmtoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. | | |
| sarcoidosis | A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. | | |
| sarcoma | A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. | | |
| schistosomiasis | A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. | | |
| scleroderma | A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. | | HP:0100324 |
| Seasonal Allergic Rhinitis | Allergic rhinitis caused by outdoor allergens. | | HP:0003193 |
| Severe Acute Respiratory Syndrome (SARS) | A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia | | |
| severe COVID-19 | http://purl.obolibrary.org/obo/DOID_0081013;https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 | | |
| Sexually Transmitted Disorder | A disorder acquired through sexual contact. | | |
| Shigellosis | An intestinal disease cause by Shigella bacteria. | | |
| Shoulder Dislocation | A dislocation of the shoulder joint. (UMLS CUI:C0037005) | | |
| sickle cell anemia | A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. https://en.wikipedia.org/wiki/Sickle_cell_disease, https://ghr.nlm.nih.gov/condition/sickle-cell-disease, https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease | | |
| sinusitis | A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. | | HP:0000255 |
| Sjogren's syndrome | An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. | | |
| Small Bowel Transplantation | Replacing diseased bowel with healthy bowel tissue. | | |
| Small for Gestational Age | Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age (UMLS CUI: C0235991). | | HP:0001518 |
| 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. | | |
| Solid Neoplasm | A benign or malignant neoplasm arising from tissues that do not include fluid areas. Representative examples include epithelial neoplasms (e.g. lung carcinoma, prostate carcinoma, breast carcinoma, colon carcinoma), and neoplasms arising from the soft tissues and bones (e.g. leiomyosarcoma, liposarcoma, chondrosarcoma, osteosarcoma). Neoplasms originating from the blood or bone marrow (leukemias and myeloproliferative disorders) are not considered solid tumors. | | |
| Solid Organ Transplant Recipient | An individual who is receiving a transplant of a solid organ. | | |
| specific developmental disorder | A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. | | |
| spinal muscular atrophy | A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. | | HP:0007269 |
| spontaneous abortion | Spontaneous abortion is a abortion characterized by the naturally occurring expulsion of a nonviable fetus. | | |
| Spontaneous Preterm Birth | Preterm birth from 20 weeks to 36 weeks, 6 days of gestation associated with one of the following: classic preterm labor or preterm premature rupture of membranes. | | |
| Staphylococcus Aureus Infection | An infectious process in which the bacteria Staphylococcus aureus is present. | | HP:0020072 |
| Stevens-Johnson syndrome | A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. | | |
| stillbirth | Stillbirth is a reproductive system symptom characterized by the birth of a dead fetus, occurs when a fetus which has died in the uterus or during labor or delivery exits a woman's body. | | |
| Streptococcal Pharyngitis | Inflammation of the throat due to Streptococcus pyogenes. | | HP:0020096 |
| Streptococcus pneumonia | A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. | | |
| substance abuse | A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. | | |
| 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. (UMLS CUI:C0038586) | | |
| Sweet syndrome | A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. | | |
| swine influenza | An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. | | |
| systemic lupus erythematosus | A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. | | HP:0002725 |
| systemic scleroderma | A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. | | HP:0100324 |
| tetanus | A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. | | |
| tonsillitis | An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills. | | HP:0011110 |
| TORCH syndrome | A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. | | |
| transverse myelitis | A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. | | |
| 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. | | |
| tularemia | A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues. | | |
| type 1 diabetes mellitus | A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. | | HP:0100651 |
| type 2 diabetes mellitus | A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. | | HP:0005978 |
| typhoid fever | A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. | | |
| ulcerative colitis | A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. | | HP:0100279 |
| upper respiratory tract disease | A respiratory system disease which involves the upper respiratory tract. | | |
| urinary tract obstruction | Urinary tract obstruction is a blockage that inhibits the flow of urine through its normal path (the urinary tract), including the kidneys, ureters, bladder, and urethra. Blockage can be complete or partial. Blockage can lead to kidney damage, kidney stones, and infection. | | |
| uveitis | An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. | | HP:0000554 |
| vasculitis | A vascular disease that is characterized by inflammation of the blood vessels. | | HP:0002633 |
| Viral Respiratory Tract Infection | A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus. | | |
| viral tropism | The specificity of a virus for a particular host tissue, determined in part by the interaction of viral surface structures with receptors present on the surface of the host cell. | | |
| vitiligo | An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. | | HP:0001045 |
| Water-Electrolyte Imbalance | Water-Electrolyte Imbalance | | |
| weight loss | weight loss | | |
| West Nile encephalitis | A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. | | |
| West Nile fever | A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. | | |
| X-linked agammaglobulinemia | An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells | | |
| yellow fever | A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. | | |
| Zika fever | A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. | | |