DISEASES Experimental Gene-Disease Assocation Evidence Scores Dataset

Description disease gene evidence scores by integrating experimental data (GWAS)
Measurement genetic association by data aggregation from genome-wide association and other genetic association studies
Association gene-disease associations by integrating evidence from experimental studies
Category disease or phenotype associations
Resource DISEASES
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  1. 4055 genes
  2. 350 diseases
  3. 35164 gene-disease associations

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disease Gene Sets

350 sets of genes associated with diseases in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

Gene Set Description
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 ┬ÁL 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.
adenocarcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
agranulocytosis
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.
alopecia universalis
alzheimer's disease A tauopathy that 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. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
amyloidosis An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.
amyotrophic lateral sclerosis A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
anemia A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
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.
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.
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 A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint.
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. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
astrocytoma A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum.
atherosclerosis
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 specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.
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 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 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 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 male infertility disease characterized by the absence of any measurable level of sperm in semen.
bacterial infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
basal ganglia disease
benign neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
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
bipolar disorder A mood disorder that involves alternating periods of mania and depression.
blood coagulation 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 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 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.
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 infarction
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.
cancer A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
carbohydrate metabolism disease An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
carcinoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
cardiomyopathy A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
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.
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.
cell type cancer A cancer that is classified by the type of cell from which it is derived.
central nervous system cancer A nervous system cancer that is located_in the central nervous system.
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.
cholangitis A bile duct disease that is an inflammation of the bile duct.
cholestasis
chronic kidney failure
chronic obstructive pulmonary disease
cognitive disorder A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
colitis An inflammatory bowel disease that involves inflammation located_in colon.
collagen disease
colon cancer A colorectal cancer that is located_in the colon.
colorectal cancer A large intestine cancer that is located_in the colon and/or located_in the rectum.
conduct disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
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.
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.
corneal disease
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.
coronary restenosis
coronary stenosis
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.
dementia A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.
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.
dengue shock syndrome A dengue disease that involves the most severe form of dengue fever, 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 easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.
dental caries
dermatitis A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
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
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 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.
disseminated intravascular coagulation
drug-induced hepatitis
duodenal ulcer Adding UMLS CUI for Curling Ulcer C0013295.
dystonia
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.
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.
endometrial cancer A uterine cancer that is located_in tissues lining the uterus.
endometriosis
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.
erythema multiforme A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
esophageal cancer A gastrointestinal system cancer that is located_in the esophagus.
esophageal disease A gastrointestinal system disease that is located_in the esophagus.
esophagitis
essential hypertension A hypertension with no known cause. It is the most common type of hypertension.
extrinsic cardiomyopathy A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium.
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.
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.
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.
genetic disease A disease that has_material_basis_in genetic variations in the human genome.
glaucoma
glioblastoma multiforme An 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 derived_from multiple cell types including astrocytes and oligondroctyes.
globe disease
glomerulonephritis A nephritis that causes inflammation of the glomeruli located_in kidney.
glucose metabolism disease
gout An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
hair disease An integumentary system disease that is located_in hair.
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.
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.
hemolytic anemia A type of anemia caused by premature destruction of red blood cells (hemolysis).
hemorrhagic disease
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.
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.
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
hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
hypothyroidism A thyroid gland disease which involves an underproduction 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.
iga glomerulonephritis A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
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.
impotence
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 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.
intermediate coronary syndrome
interstitial lung disease
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
intracranial arteriosclerosis
iron deficiency anemia
iron metabolism disease
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.
kidney cancer A urinary system cancer that is located_in the kidney.
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.
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.
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.
leprosy A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
leukemia A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
leukocyte disease
leukopenia A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.
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 cirrhosis
liver disease
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 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.
lupus erythematosus
lymph node disease
lymphadenitis
lymphatic system disease An immune system disease that is located_in the lymphatic system.
lymphoblastic leukemia A leukemia that has_material_basis_in lymphoblasts (immature white blood cells).
lymphoid leukemia
lymphoma A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
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.
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.
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.
melanoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye.
mental depression
metabolic syndrome x OMIM mapping confirmed by DO. [SN].
microcytic anemia OMIM mapping confirmed by DO. [SN].
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.
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 myeloma that is located_in the plasma cells in bone marrow.
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 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.
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.
myopathy A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
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
nephrolithiasis OMIM mapping confirmed by DO. [SN].
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 An autonomic nervous system neoplasm that derives_from immature nerve cells.
neurodegenerative disease A central nervous system disease that results_in the progressive deterioration of function or structure of neurons.
non-hodgkin lymphoma A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
non-small cell lung carcinoma A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
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 OMIM mapping confirmed by DO. [SN].
obstructive lung disease
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 An arthritis that has_material_basis_in worn out cartilage located_in joint.
osteonecrosis An ischemic bone disease that results_in necrosis located_in bone.
osteoporosis A bone resorption disease that has_material_basis_in a drop in estrogen or testosterone which results_in the thinning of bone tissue and loss of bone mineral density.
osteosarcoma A bone cancer that is located_in bone that has_material_basis_in cells of mesenchymal origin.
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
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.
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.
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.
penile disease
peptic ulcer disease
periodontal disease
peripheral nervous system neoplasm A nervous system cancer that is located_in the peripheral nervous system.
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.
pharynx cancer A gastrointestinal system cancer that is located_in the pharyx.
phlebitis A vein disease that is characterized by inflammation of a vein.
physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
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.
polyarteritis nodosa
polycystic ovary syndrome OMIM mapping confirmed by DO. [SN].
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 brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.
prostate cancer A male reproductive organ cancer that is located_in the prostate.
psoriasis A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
psychotic disorder A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.
pulmonary emphysema
pulmonary fibrosis
refractive error
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 disease An eye disease that is located_in the retina.
rheumatic disease A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue.
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.
sarcoidosis A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
schizophrenia A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
scleroderma A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.
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
skin cancer An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
skin disease An integumentary system disease that is located_in skin.
sleep disorder A disease of mental health that involves disruption of sleep patterns.
small intestine cancer An intestinal cancer that is located_in the small intestine.
specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
stomach cancer A gastrointestinal system cancer that is located_in the stomach.
stomach disease A gastrointestinal system disease that is located_in the stomach.
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.
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 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.
systemic scleroderma A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
tauopathy A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
teeth hard tissue disease
testicular cancer A male reproductive system cancer that is located_in the testicles.
thalassemia OMIM mapping confirmed by DO. [LS].
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.
thrombophilia OMIM mapping confirmed by DO. [LS].
thrombophlebitis A phlebitis that results from a blood clot in the vessel.
thyroid cancer An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage.
thyroid gland disease An endocrine system disease that is located_in the thyroid.
thyrotoxicosis A thyroid gland disease that is characterized by excess thyroid hormone.
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 disease
toxic pneumonitis A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.
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 fibroid A uterine benign neoplasm derived from the smooth muscle layer of the uterus.
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 skin 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 infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Viruses.
vitiligo A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.