GWASdb SNP-Disease Associations Dataset

Description SNP-disease association p-values curated from published GWAS
Measurement genetic association by data aggregation from genome-wide association and other genetic association studies
Association gene-disease associations by manual GWAS curation
Category disease or phenotype associations
Resource GWASdb
Citation(s)
Last Updated
Stats
  1. 11804 genes
  2. 585 diseases
  3. 217321 gene-disease associations

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disease Gene Sets

585 sets of genes associated with diseases in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Gene Set Description
abdominal aortic aneurysm An aortic aneurysm that is located_in the abdominal aorta.
acne A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.
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.
acute leukemia A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia.
acute lymphocytic leukemia A lymphoblastic leukemia that is characterized by over production of lymphoblasts.
acute myeloid leukemia A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
adrenal gland disease An endocrine system disease that is located_in the adrenal gland.
adult syndrome An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63.
agammaglobulinemia A B cell deficiency that is caused by a reduction in all types of gamma globulins.
age related macular degeneration A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.
agranulocytosis
alcohol abuse A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
alcohol dependence
alcohol-induced mental disorder
allergic contact dermatitis A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.
allergic rhinitis A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.
alopecia A hypotrichosis that is characterized by a loss of hair from the head or body.
alopecia areata A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
alzheimer's disease A 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.
amphetamine abuse A substance abuse that involves the recurring use of amphetamines despite negative consequences.
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.
angioedema A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues.
ankylosing spondylitis A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.
anorexia nervosa An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.
anthrax disease A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.
antidepressant type abuse A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.
antiphospholipid syndrome A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).
anxiety disorder A cognitive disorder that involves an excessive, irrational dread of everyday situations.
aortic aneurysm An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
aortic disease An artery disease that is characterized by degeneration of the cells composing the aortic wall.
aortic valve disease Updating out dated UMLS CUI.
arteriosclerosis An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
arteriosclerotic cardiovascular disease
artery disease A vascular disease that is located_in an artery.
arthritis 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.
asperger syndrome An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
asthma A 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 endocrine system A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system.
autoimmune disease of gastrointestinal tract A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.
autoimmune disease of the nervous system
autoimmune disease of urogenital tract A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract.
autonomic nervous system neoplasm A peripheral nervous system neoplasm that is located_in the autonomic nervous system.
autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
autosomal genetic disease A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes.
autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
azoospermia A male infertility disease characterized by the absence of any measurable level of sperm in semen.
b cell deficiency A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.
b-cell lymphoma A non-Hodgkin lymphoma that has_material_basis_in B cells.
bacterial gastritis A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.
bacterial infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
barrett's esophagus
basal cell carcinoma A skin carcinoma affecting basal cells.
basal ganglia disease
behcet's disease A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.
benign neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
beta thalassemia A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
bile duct disease
biliary atresia A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
biliary tract cancer A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.
biliary tract disease
bilirubin metabolic disorder An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
bipolar disorder A mood disorder that involves alternating periods of mania and depression.
bladder carcinoma A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
blood coagulation disease
blood platelet disease
blood protein disease
bone cancer A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue.
bone deterioration disease A bone structure disease that results_in change or damage of structure located_in bone.
bone development disease A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
bone disease A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
bone inflammation disease A bone disease that results_in inflammation of the located_in bone.
bone marrow cancer A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow.
bone marrow disease
bone remodeling disease A bone disease that results_in formation or resorption abnormalities located_in bone.
bone resorption disease A bone remodeling disease that results in an abnormal decrease of bone density or mass.
bone structure disease A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.
borderline personality disorder A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
brain cancer A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
brain disease
brain glioma A brain cancer that has_material_basis_in glial cells.
brain ischemia
breast cancer A thoracic cancer that originates in the mammary gland.
bronchial disease A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage.
brugada syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
bulimia nervosa An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem.
bullous skin disease An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested.
calcium metabolism disease
cancer A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
cannabis abuse A substance abuse that involves the recurring use of cannabis despite negative consequences.
carbohydrate metabolism disease An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism.
carcinoma A 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.
carotid artery disease
cataract A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
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.
cervical cancer A female reproductive organ cancer that is located_in the cervix.
cholangitis A bile duct disease that is an inflammation of the bile duct.
cholecystolithiasis
cholestasis
cholesterol embolism A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream.
cholesterol ester storage disease
chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
chronic fatigue syndrome A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.
chronic kidney failure
chronic lymphocytic leukemia A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
chronic myeloid leukemia A myeloid leukemia that is characterized by over production of white blood cells.
chronic myeloproliferative disease A myeloma that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.
chronic obstructive pulmonary disease
cleft lip
cocaine dependence A drug dependence that is a psychological dependency on the regular use of cocaine.
cognitive disorder A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
colitis An inflammatory bowel disease that involves inflammation located_in colon.
collagen disease
colon cancer A colorectal cancer that is located_in the colon.
colonic disease
colorectal cancer A large intestine cancer that is located_in the colon and/or located_in the rectum.
commensal bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.
common variable immunodeficiency A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).
communication disorder A specific developmental disorder that involves specific developmental disorders of speech and language.
complement deficiency A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.
conduct disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
congenital heart disease OMIM mapping confirmed by DO. [SN].
congenital hemolytic anemia
congestive heart failure 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.
contact dermatitis
corneal disease
corneal dystrophy
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 thrombosis
cranial nerve disease A neuropathy that is located_in one of the twelve cranial nerves.
craniosynostosis A synostosis that results_in premature fusion located_in skull.
creutzfeldt-jakob disease OMIM mapping confirmed by DO. [SN].
crohn's disease An intestinal disease that involves inflammation located_in intestine.
cystic fibrosis An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.
degeneration of macula and posterior pole
dementia 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.
dental caries
dermatitis A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
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.
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
diabetic retinopathy
diarrhea A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.
dilated cardiomyopathy An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently and characterized by an enlarged heart.
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.
drug dependence A substance dependence that involves the continued use of drugs despite problems related to use of the substance.
drug psychosis
drug-induced hepatitis
drug-induced mental disorder
duodenal ulcer Adding UMLS CUI for Curling Ulcer C0013295.
dysgammaglobulinemia A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins.
dyslexia A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
dysostosis A bone development disease that results_in defective ossification of located_in bone.
eating disorder A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health.
elephantiasis
end stage renal failure
endocrine gland cancer An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system.
endocrine system disease A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
endogenous depression A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system.
endometrial cancer A uterine cancer that is located_in tissues lining the uterus.
endometrial carcinoma A endometrial cancer that is located_in the tissue lining the uterus.
endometriosis
eosinophilia
eosinophilic esophagitis An esophagitis characterized by inflammation involving eosinophils located_in esophagus.
epilepsy syndrome A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
epstein-barr virus hepatitis A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
esophageal cancer A gastrointestinal system cancer that is located_in the esophagus.
esophageal carcinoma A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
esophageal disease A gastrointestinal system disease that is located_in the esophagus.
esophagitis
esophagus squamous cell carcinoma An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.
essential tremor A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.
exanthem
exfoliation syndrome OMIM mapping confirmed by DO. [SN].
eye and adnexa disease A sensory system disease that is located_in the eye or the adnexa of the eye.
eye disease An eye and adnexa disease that is located_in the eye.
facial dermatosis
factor vii deficiency
factor viii deficiency An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
familial atrial fibrillation An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.
familial hypertriglyceridemia A lipid metabolism disorder characterized by elevated triglyceride levels as a result of excess hepatic production of VLDL or heterozygous LPL deficiency.
fatty liver disease A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis.
female breast cancer
female reproductive organ benign neoplasm
female reproductive organ cancer A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva.
female reproductive system disease A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes.
focal epilepsy An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
frontotemporal dementia A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
gallbladder cancer A biliary tract cancer that is located_in the gallbladder.
gallbladder disease A gastrointestinal system disease that is located_in the gallbladder.
gastric adenocarcinoma A stomach carcinoma that derives_from epithelial cells of glandular origin.
gastric outlet obstruction
gastritis A stomach disease that is an inflammation of the lining of the stomach.
gastrointestinal system benign neoplasm An organ system benign neoplasm located_in gastrointestinal tract organs.
gastrointestinal system cancer An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
gastrointestinal system disease A disease of anatomical entity that is located_in the gastrointestinal tract.
gaucher's disease A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
genetic disease A disease that has_material_basis_in genetic variations in the human genome.
gestational diabetes
gilles de la tourette syndrome A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
glaucoma
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.
glomerulonephritis A nephritis that causes inflammation of the glomeruli located_in kidney.
glucose metabolism disease
goiter A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
gonadal disease An endocrine system disease that is located_in the gonads.
gonadal dysgenesis A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
gout An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
graves' disease An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
hair disease An integumentary system disease that is located_in hair.
hand, foot and mouth disease A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.
head and neck cancer An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.
heart conduction disease A cardiovascular system disease that involves the heart's electrical conduction system.
heart disease A cardiovascular system disease that involves the heart.
heart valve disease A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).
hematologic cancer An immune system cancer located_in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
hematopoietic system disease An immune system disease that has_material_basis_in hematopoietic cells.
hemoglobinopathy
hemolytic anemia A type of anemia caused by premature destruction of red blood cells (hemolysis).
hemorrhagic disease
hemorrhagic thrombocythemia A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets.
hepatitis
hepatitis b A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
hepatitis c A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
hepatobiliary disease A gastrointestinal system disease that is located_in the liver and/or biliary tract.
hepatocellular carcinoma A liver carcinoma that has_material_basis_in undifferentiated hepatocytes.
heroin dependence An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.
hirschsprung's disease A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
hodgkin's lymphoma A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
human immunodeficiency virus infectious disease A viral infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands.
hyperostosis A bone remodeling disease that results in an abnormal growth of located_in bone.
hyperparathyroidism A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.
hypersensitivity reaction disease An immune system disease that is caused by abnormal immune responses.
hypersensitivity reaction type ii disease An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.
hypersensitivity reaction type iv disease
hypertension
hyperthyroidism A thyroid gland disease that involves an over production of thyroid hormone.
hypertrophic cardiomyopathy An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
hypertrophic pyloric stenosis A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.
hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
hypothyroidism A 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.
idiopathic interstitial pneumonia A pneumonia located_in the lung parenchyma of unknown cause.
idiopathic pulmonary fibrosis An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.
iga glomerulonephritis A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
ileal neoplasm
immune system cancer An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
immune system disease A disease of anatomical entity that is located_in the immune system.
immunoglobulin alpha deficiency A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor.
impulse control disorder A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.
inflammatory bowel disease An intestinal disease characterized by inflammation located_in all parts of digestive tract.
inherited blood coagulation disease
inherited metabolic disorder A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inhertied enzyme abnormality.
inner ear disease
integumentary system cancer An organ system cancer that is located_in the skin, hair and nails.
integumentary system disease A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
interstitial lung disease
intestinal benign neoplasm A gastrointestinal system benign neoplasm that is located_in the intestine.
intestinal cancer A gastrointestinal system cancer that is located_in the intestine.
intestinal disease A gastrointestinal system disease that is located_in the intestine.
intracranial aneurysm
intracranial arterial disease
intrinsic cardiomyopathy A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
iris disease
iron deficiency anemia
iron metabolism disease
ischemia A vascular disease that is characterized by a restriction in blood supply to tissues.
ischemic bone disease A bone disease that results_in an interruption of blood supply located_in bone.
juvenile rheumatoid arthritis A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.
kawasaki disease A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities.
keratoconus A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
kidney cancer A urinary system cancer that is located_in the kidney.
kidney disease A 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.
labyrinthine disease
language disorder A communication disorder that involves the processing of linguistic information.
large intestine cancer An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other.
larynx cancer A respiratory system cancer that is located_in the larynx.
learning disability A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information.
lens disease
leprosy A 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 carcinoma A liver cancer that has_material_basis_in epithelial cells.
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 adenocarcinoma A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin.
lung cancer A respiratory system cancer that is located_in the lung.
lung carcinoma A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.
lung disease A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.
lung small cell carcinoma A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells.
lupus erythematosus
lymph node disease
lymphadenitis
lymphatic system disease An immune system disease that is located_in the lymphatic system.
lymphedema
lymphoblastic leukemia A leukemia that has_material_basis_in lymphoblasts (immature white blood cells).
lymphoma A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
lymphopenia A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.
lysosomal storage disease An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
macular degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss.
major depressive disorder An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities.
malaria A 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.
malignant mesothelioma A cell type cancer that has_material_basis_in mesothelial tissue.
mantle cell lymphoma A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.
megacolon A colonic disease that is characterized by an abnormal dilation of the colon.
melanoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye.
membranous glomerulonephritis
meningioma A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
mental depression
metabolic syndrome x OMIM mapping confirmed by DO. [SN].
metal metabolism disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
microcytic anemia OMIM mapping confirmed by DO. [SN].
middle ear disease
migraine A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
migraine with aura A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
migraine without aura A migraine that is characterized by migraine headaches that are not accompanied by an aura.
mineral metabolism disease An acquired metabolic disease that is characterized by abnormal mineral metabolism.
monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).
mood disorder A cognitive disorder that involves an excessive, irrational dread of everyday situations.
motor neuron disease A neurodegenerative disease that is located_in the motor neurones.
mouth disease A gastrointestinal system disease that is located_in the mouth.
movement disease
moyamoya disease A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
multiple myeloma A 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 atrophy
muscular disease A musculoskeletal system disease that affects the muscles.
musculoskeletal system cancer An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
myasthenia gravis OMIM mapping confirmed by DO. [SN].
myelodysplastic myeloproliferative cancer A bone marrow cancer that results_in the overproduction of white blood cells.
myelofibrosis A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue.
myeloid leukemia A leukemia that is located_in myeloid tissue.
myeloma A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body.
myocardial infarction Xref MGI.
myofascial pain syndrome
myopathy A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
myopia A refractive error characterized by the inability to see farther objects clearly.
myositis A myopathy characterized by muscle inflammation.
narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
nasal cavity disease
nasopharynx carcinoma A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.
nephritis
nephroblastoma A kidney cancer that affects the kidneys and typically located_in children.
nephrolithiasis 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.
neuromuscular disease A neuropathy that affect the nerves that control the voluntary muscles.
neuromuscular junction disease A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.
neuromyelitis optica A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord.
neuropathy A nervous system disease that is located_in nerves or nerve cells.
neutropenia
nicotine dependence
non-hodgkin lymphoma A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
non-small cell lung carcinoma A 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].
obsessive-compulsive disorder An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
obstructive lung disease
open-angle glaucoma A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
opiate dependence A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.
optic nerve disease A cranial nerve disease that is located_in the optic nerve.
oral cavity cancer A gastrointestinal system cancer that is located_in the oral cavity.
organ system benign neoplasm A benign neoplasm that is classified by the organ system from which it is arising from.
organ system cancer A cancer that is classified based on the organ it starts in.
orofacial cleft
osteoarthritis 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.
otitis media A otitis which involves inflammation of the middle ear.
otosclerosis A labyrinthine disease characterized by an abnormal bone growth in the middle ear.
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.
papillary thyroid carcinoma A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer.
parasitic infectious disease A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
parasitic protozoa infectious disease A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes.
parathyroid gland disease An endocrine system disease that is located_in the parathyroid gland.
parkinson's disease A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
pathological gambling An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
pemphigus
peptic ulcer disease
periodontal disease
periodontitis
peripartum cardiomyopathy
peripheral nervous system neoplasm A nervous system cancer that is located_in the peripheral nervous system.
peripheral neuropathy A neuropathy that is located_in nerves of the peripheral nervous system.
peripheral primitive neuroectodermal tumor A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm.
peripheral vascular disease A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain.
personality disorder A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.
pervasive developmental disorder A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
phacogenic glaucoma
pharynx cancer A gastrointestinal system cancer that is located_in the pharyx.
phosphorus metabolism disease
physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
pigmented basal cell carcinoma
placenta disease A uterine disease that is located_in the placenta.
plantar fascial fibromatosis
pneumonia A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
podoconiosis
polycystic ovary syndrome OMIM mapping confirmed by DO. [SN].
polycythemia
polycythemia vera OMIM mapping confirmed by DO. [SN].
post-traumatic stress disorder An anxiety disorder which results from a traumatic experience that results in psychological trauma.
pre-eclampsia A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
premature ovarian failure An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
primary bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.
primary biliary cirrhosis A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
primary immunodeficiency disease An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
prion disease A 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.
progressive supranuclear palsy A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.
prolapse of female genital organ
prostate cancer A male reproductive organ cancer that is located_in the prostate.
prostate disease
prostatic hypertrophy
protein c deficiency
psoriasis A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
psoriatic arthritis A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis.
psychotic disorder A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.
pulmonary embolism An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.
pulmonary emphysema
pulmonary systemic sclerosis
pyloric stenosis
reading disorder A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process.
rectal disease
recurrent hypersomnia A sleep disorder that involves recurring bouts of excessive amounts of sleepiness.
refractive error
renal artery disease
renal carcinoma A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products).
renal cell carcinoma A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
reproductive organ benign neoplasm An organ system benign neoplasm that is located_in reproductive system organs.
reproductive organ cancer An organ system cancer that is manifested in the reproductive organs.
reproductive system disease A disease of anatomical entity that is located_in reproductive system organs.
respiratory system cancer An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract.
respiratory system disease A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
restless legs syndrome A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
retinal degeneration
retinal detachment OMIM mapping confirmed by DO. [SN].
retinal disease An eye disease that is located_in the retina.
retinal vascular disease
rheumatic disease 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.
ritter's disease A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability.
sarcoidosis A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
schizoaffective disorder A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality.
schizophrenia A 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.
sclerosing cholangitis
sebaceous gland disease A skin disease that is located_in the sebaceous gland.
selective iga deficiency disease A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract.
selective ige deficiency disease
selective igg deficiency disease
selective immunoglobulin deficiency disease
sensory peripheral neuropathy A peripheral neuropathy that involves damage to nerves of the peripheral nervous system.
sensory system disease A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell).
sexual disorder A disease of mental health that involves the impairment in normal sexual functioning.
sexual dysfunction
sick sinus syndrome Xref MGI.
sickle cell anemia OMIM mapping confirmed by DO. [LS].
sinoatrial node disease A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.
sjogren's syndrome A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
skin cancer An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
skin carcinoma A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
skin disease An integumentary system disease that is located_in skin.
skin melanoma A skin cancer that has_material_basis_in melanocytes.
sleep disorder A disease of mental health that involves disruption of sleep patterns.
small intestine neoplasm
smallpox A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk.
specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
speech disorder A communication disorder that involves difficulty with the act of speech production.
sphingolipidosis
squamous cell carcinoma A carcinoma that derives_from squamous epithelial cells.
stevens-johnson syndrome
stomach cancer A gastrointestinal system cancer that is located_in the stomach.
stomach carcinoma A stomach cancer that is located_in the stomach.
stomach disease A gastrointestinal system disease that is located_in the stomach.
substance abuse A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
substance dependence A substance-related disorder that involves the continued use of alcohol or other drugs despite despite problems related to use of the substance.
substance-induced psychosis
substance-related disorder A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning.
syndrome A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality.
synostosis A dysostosis that results_in abnormal fusing of adjacent bones.
synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
systemic lupus erythematosus A 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
temporal lobe epilepsy
testicular cancer A male reproductive system cancer that is located_in the testicles.
testicular germ cell cancer A testicular cancer that has_material_basis_in germ cells.
tetralogy of fallot OMIM mapping confirmed by DO. [LS].
thalassemia OMIM mapping confirmed by DO. [LS].
thoracic aortic aneurysm An aortic aneurysm that is located_in the thoracic aorta.
thoracic cancer An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall.
thrombocytopenia A blood platelet disease characterized by low a platelet count in the blood.
thrombophilia OMIM mapping confirmed by DO. [LS].
thyroid cancer An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage.
thyroid carcinoma A thyroid cancer that has_material_basis_in epithelial cells.
thyroid gland disease An endocrine system disease that is located_in the thyroid.
thyroid malformation
thyroiditis Updating to more specific UMLS_CUI from C0029495 to C0040147.
tic disorder A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity.
tooth agenesis A tooth disease characterized by failure to develop on or more missing teeth.
tooth disease
tuberculosis A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.
type 1 diabetes mellitus A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas.
type 2 diabetes mellitus A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly.
ulcerative colitis A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.
upper respiratory tract disease A respiratory system disease which involves the upper respiratory tract.
urinary bladder cancer An urinary system cancer that results_in malignant growth located_in the urinary bladder.
urinary system cancer An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra.
urinary system disease A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
uterine benign neoplasm
uterine cancer A female reproductive organ cancer that is located_in the uterus.
uterine disease A female reproductive system disease that is located_in the uterus.
uterine fibroid A uterine benign neoplasm derived from the smooth muscle layer of the uterus.
uveal disease
vascular dementia A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.
vascular disease A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
vascular hemostatic disease
vasculitis A vascular disease that is characterized by inflammation of the blood vessels.
vein disease A vascular disease that is located_in a vein.
viral hepatitis A hepatitis that involves viral infection causing inflammation of the liver.
viral infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Viruses.
viral pneumonia A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.
visual cortex disease
visual pathway disease
vitamin b12 deficiency A vitamin metabolic disorder that results from low blood levels of vitamin B12.
vitamin metabolic disorder An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
vitiligo A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
von willebrand's disease A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
waterhouse-friderichsen syndrome An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland.
wegener's granulomatosis An autoimmune disease that is a vasculitis that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
withdrawal disorder A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.
x-linked disease A monogenic disease that has_material_basis_in muations in genes on the X chromosome.