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Ectopic Kidney | An ectopic kidney is a birth defect in which a kidney is located below, above, or on the opposite side of its usual position. It results from the kidney failing to ascend from its origin in the true pelvis or from a superiorly ascended kidney located in the thorax. |
Echinococcosis | Echinococcosis is a parasitic disease caused by tapeworms of the Echinococcus type. The two main types of the disease are cystic echinococcosis and alveolar echinococcosis. Less common forms include polycystic echinococcosis and unicystic echinococcosis. |
familial erythrocytosis | Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. |
Inclusion Body Myositis | Inclusion body myositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic, progressive muscle inflammation accompanied by muscle weakness. |
Loin pain hematuria syndrome | Loin pain hematuria syndrome is a condition that is characterized by persistent or recurrent loin pain and hematuria (blood in the urine). |
Fecal Incontinence | Fecal incontinence, is the accidental passing of solid or liquid stool or mucus from the rectum. Fecal incontinence includes the inability to hold a bowel movement until reaching a toilet as well as passing stool into ones underwear without being aware of it happening. |
Phenylketonuria | Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). |
Roberts syndrome | Roberts syndrome is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. |
mitochondrial trifunctional protein deficiency | Mitochondrial trifunctional protein deficiency is an autosomal recessive fatty acid oxidation disorde that prevents the body from converting certain fats to energy, particularly during periods without food. People with this disorder have inadequate levels of an enzyme that breaks down a certain group of fats called long-chain fatty acids. |
osteogenesis imperfecta | Osteogenesis imperfecta (OI) is a genetic or heritable disease in which bones fracture easily, often with no obvious cause or minimal injury. |
Hidradenocarcinoma | Hidradenocarcinoma is a malignant adnexal tumor of the sweat gland. It is the malignant variant of the benign hidradenoma. It may develop de novo or in association with an existent hidradenoma. |
Bilateral generalized polymicrogyria | Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult to treat. |
Cerebrotendinous xanthomatosis | Cerebrotendinous xanthomatosis is an autosomal recessive form of xanthomatosis. It falls within a group of genetic disorders called the leukodystrophies. |
Congenital dyserythropoietic anemia type 2 | Congenital dyserythropoietic anaemia type II is an autosomal recessive disorder characterized by ineffective erythropoiesis. CDA type II is the most frequent congenital dyserythropoietic anaemia, caused by various homozygous or compound heterozygous mutations in the SEC23B gene, resulting in hypoglycosylation of the erythrocyte band three. |
phenylketonuria | Phenylketonuria is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. |
Raynaud's Disease | Raynaud syndrome is a medical condition in which the spasm of small arteries causes episodes of reduced blood flow to end arterioles. Typically, the fingers, and less commonly, the toes, are involved. Rarely, the nose, ears, or lips are affected. The episodes classically result in the affected part turning white and then blue. |
hypohidrotic ectodermal dysplasia | Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands. |
Gastrointestinal Carcinoid Tumors | A gastrointestinal carcinoid tumor is a rare, slow-growing form of cancer that affects certain cells in the lining of the stomach and intestines. The cells it affects make hormones that regulate the production of digestive juices and muscles that move food through the stomach and intestines. This kind of cancer usually occurs in the appendix, small intestine, or rectum. |
familial glucocorticoid deficiency | Familial glucocorticoid deficiency is a condition that occurs when the adrenal glands, which are hormone-producing glands located on top of each kidney, do not produce certain hormones called glucocorticoids. |
Urinary Incontinence | Urinary incontinence is any uncontrolled leakage of urine. It is a common and distressing problem, which may have a large impact on quality of life. It has been identified as an important issue in geriatric health care. |
Kawasaki Disease | Kawasaki disease is a syndrome of unknown cause that results in a fever and mainly affects children under 5 years of age. It is a form of vasculitis, where medium-sized blood vessels become inflamed throughout the body. |
Acquired Cystic Kidney Disease | Acquired Cystic Kidney Disease is characterized by the development of numerous fluid-filled cysts in the kidneys in individuals who have no history of hereditary cystic disease. ACKD is diagnosed when three or more cysts are present in each kidney in a patient with chronic kidney disease and small or nomal-sized kidneys. |
celiac disease | Celiac disease is a long-term autoimmune disorder, primarily affecting the small intestine, where individuals develop intolerance to gluten, present in foods such as wheat, rye and barley. Classic symptoms include gastrointestinal problems such as chronic diarrhoea, abdominal distention, malabsorption, loss of appetite, and among children failure to grow normally. |
Stormorken syndrome | Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets |
cardiofaciocutaneous syndrome | Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). |
Lymphoma | Lymphoma is a group of blood and lymph tumors that develop from lymphocytes (a type of white blood cell). The name typically refers to just the cancerous versions rather than all such tumours. Signs and symptoms may include enlarged lymph nodes, fever, drenching sweats, unintended weight loss, itching, and constantly feeling tired. |
hereditary sensory and autonomic neuropathy type IE | Hereditary sensory and autonomic neuropathy type IE is a disorder that affects the nervous system. It is characterized by three main features: hearing loss, a decline of intellectual function (dementia), and a worsening loss of sensation in the feet and legs (peripheral neuropathy). |
Non-Small Cell Lung Cancer | Non-small-cell lung cancer is any type of epithelial lung cancer other than small-cell lung cancer. NSCLC accounts for about 85% of all lung cancers. As a class, NSCLCs are relatively insensitive to chemotherapy, compared to small-cell carcinoma. |
Machado-Joseph Disease | Machado–Joseph disease is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in a lack of muscle control and coordination of the upper and lower extremities. |
Glomerular Diseases | Glomerular disease is a condition that can damage your kidneys. The disease attacks tiny filters in your kidneys, called glomeruli, where your blood is cleaned. Damaged glomeruli can allow proteins and sometimes red blood cells to leak into your urine. |
Myotonia | Myotonia is a symptom of a small handful of certain neuromuscular disorders characterized by delayed relaxation (prolonged contraction) of the skeletal muscles after voluntary contraction or electrical stimulation, and the muscle shows an abnormal EMG. |
Prader-Willi syndrome | Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. |
Spastic paraplegia 11 | Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). |
Endometrial Cancer | Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. |
Cap myopathy | Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. |
Cerebral Arteriosclerosis | Cerebral arteriosclerosis is the result of thickening and hardening of the walls of the arteries in the brain. Symptoms of cerebral arteriosclerosis include headache, facial pain, and impaired vision. |
Lysinuric protein intolerance | Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. |
GLUT1 deficiency syndrome | GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. |
Foot Drop | Foot drop describes the inability to raise the front part of the foot due to weakness or paralysis of the muscles that lift the foot. |
Paraneoplastic cerebellar degeneration | Paraneoplastic cerebellar degeneration is a paraneoplastic syndrome associated with a broad variety of tumors including lung cancer, ovarian cancer, breast cancer, Hodgkin’s lymphoma and others. PCD is a rare condition that occurs in less than 1% of cancer patients. |
Infectious Mononucleosis | Infectious mononucleosis is an infection usually caused by the Epstein-Barr virus. It is primarily spread through saliva but can rarely be spread through semen or blood. |
genitopatellar syndrome | Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body. |
Alopecia areata | Alopecia areata is an autoimmune disease in which the immune system mistakenly attacks the hair follicles. It is a condition in which hair is lost from some or all areas of the body. It often results in a few bald spots on the scalp, each about the size of a coin. |
Systemic sclerosis | Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. |
Periventricular Leukomalacia | Periventricular leukomalacia is a form of white-matter brain injury, characterized by the necrosis (more often coagulation) of white matter near the lateral ventricles. It can affect newborns and (less commonly) fetuses; premature infants are at the greatest risk of neonatal encephalopathy which may lead to this condition. |
Primary carnitine deficiency | Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). |
vitamin D-dependent rickets | Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). |
Factor XI deficiency | Factor XI deficiency is a rare genetic bleeding disorder caused by reduced levels and insufficient activity of a blood protein called factor XI. |
Freeman Sheldon syndrome | Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. |
Multisystemic smooth muscle dysfunction syndrome | Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. |
Fibrodysplasia ossificans progressiva | Fibrodysplasia ossificans progressiva is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). |
congenital dyserythropoietic anemia | Congenital dyserythropoietic anemia is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells in the body and a less than normal quantity of hemoglobin in the blood. |
Wilson disease | Wilson's disease is a genetic disorder in which excess copper builds up in the body. Symptoms are typically related to the brain and liver. |
Barrett esophagus | Barrett's esophagus is a condition in which there is an abnormal (metaplastic) change in the mucosal cells lining the lower portion of the esophagus, from stratified squamous epithelium to simple columnar epithelium with interspersed goblet cells that are normally present only in the small intestine and large intestine. |
3-beta-hydroxysteroid dehydrogenase deficiency | 3-beta-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. |
paroxysmal nocturnal hemoglobinuria | Paroxysmal nocturnal hemoglobinuria is a rare, acquired, life-threatening disease of the blood characterized by destruction of red blood cells by the complement system, a part of the body's innate immune system. This destructive process occurs due to deficiency of the red blood cell surface protein DAF, which normally inhibits such immune reactions. |
spondylocarpotarsal synostosis syndrome | Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. |
Leishmaniasis | Leishmaniasis is a wide array of clinical manifestations caused by parasites of the Trypanosomatida genus Leishmania. It is generally spread through the bite of phlebotomine sandflies, Phlebotomus and Lutzomyia, and occurs most frequently in the tropics and sub-tropics of Africa, Asia, the Americas, and southern Europe. |
Oculofaciocardiodental syndrome | Oculofaciocardiodental (OFCD) syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. People with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. |
Methylmalonic acidemia with homocystinuria, type cblC | Methylmalonic academia with homocystinuria (MMA+HCU) cblC is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). |
glutathione synthetase deficiency | Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. |
Chorea | Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. |
Brittle diabetes | Brittle diabetes is characterized by severe instability of blood glucose levels with frequent and unpredictable episodes of hypoglycemia and/or ketoacidosis that disrupt quality of life, often requiring frequent or prolonged hospitalizations. |
Incontinentia Pigmenti | Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. |
Sepsis | Sepsis is a life-threatening condition that arises when the body's response to infection causes injury to its own tissues and organs. |
chronic atrial and intestinal dysrhythmia | Chronic atrial and intestinal dysrhythmia is a disorder affecting the heart and the digestive system. CAID disrupts the normal rhythm of the heartbeat ; affected individuals have a heart rhythm abnormality called sick sinus syndrome. |
Deep Vein Thrombosis | Deep vein thrombosis is a type of venous thrombosis involving the formation of a blood clot in a deep vein, most commonly in the legs or pelvis. A minority of DVTs occur in the arms. Symptoms can include pain, swelling, redness, and enlarged veins in the affected area, but some DVTs have no symptoms. |
Isovaleric acidemia | Isovaleric acidemia is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat. |
Pol III-related leukodystrophy | Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve cells (neurons) covered by a fatty substance called myelin. |
Thalassemia | Thalassemias are inherited blood disorders that result in abnormal hemoglobin. Symptoms depend on the type of thalassemia and can vary from none to severe. Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. |
Triple A syndrome | Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). |
Autonomic Nervous System Disorders | Autonomic nervous system disorders can occur alone or as the result of another disease, such as Parkinson's disease, alcoholism and diabetes. Problems can affect either part of the system, as in complex regional pain syndromes, or all of the system. |
Infantile Neuroaxonal dystrophy | Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills. |
dopamine transporter deficiency syndrome | Dopamine transporter deficiency syndrome is a rare movement disorder that causes progressively worsening dystonia and parkinsonism. It is the first known inherited dopamine 'transportophathy.' |
MECP2-related severe neonatal encephalopathy | MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). |
Osteoporosis | Osteoporosis is a systemic skeletal disorder characterized by low bone mass, micro-architectural deterioration of bone tissue leading to bone sterility, and consequent increase in fracture risk. It is the most common reason for a broken bone among the elderly |
Zollinger-Ellison Syndrome | Zollinger–Ellison syndrome is a disease in which tumors cause the stomach to produce too much acid, resulting in peptic ulcers. Symptoms include abdominal pain and diarrhea. |
Filippi syndrome | Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). |
Disseminated Intravascular Coagulation | Disseminated intravascular coagulation is a condition in which blood clots form throughout the body, blocking small blood vessels. Symptoms may include chest pain, shortness of breath, leg pain, problems speaking, or problems moving parts of the body. |
ulcerative colitis | Ulcerative colitis is a long-term condition that results in inflammation and ulcers of the colon and rectum. The primary symptoms of active disease are abdominal pain and diarrhea mixed with blood (hematochezia). Weight loss, fever, and anemia may also occur. |
Syringoma | Syringomas are firm yellowish, translucent, or skin colored papules that are often found on the face, particularly around the eyes. |
Myotonia Congenita | Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. |
Book syndrome | Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia, excessive sweating and premature graying of the hair. |
Chiari malformation | Chiari malformation is a structural defect in the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum (the opening at the base of the skull). |
Parsonage Turner syndrome | Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. |
Combined pituitary hormone deficiency | Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. |
Pseudoangiomatous stromal hyperplasia | Pseudoangiomatous stromal hyperplasia is a rare but benign breast lesion presenting mostly in premenopausal women. It may be found incidentally in routine biopsies performed for benign or malignant diseases of the breast. |
multiple pterygium syndrome | Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. |
Hemifacial myohyperplasia | Hemifacial myohyperplasia is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. |
Ectopic Pregnancy | An ectopic pregnancy is when a fertilised egg implants itself outside of the womb, usually in one of the fallopian tubes. |
Melioidosis | Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water. |
lymphedema-distichiasis syndrome | Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. |
Dandy-Walker malformation | Dandy–Walker malformation is a rare congenital brain malformation in which the part joining the two hemispheres of the cerebellum (the cerebellar vermis) does not fully form, and the fourth ventricle and space behind the cerebellum (the posterior fossa) are enlarged with cerebrospinal fluid. |
Li-Fraumeni syndrome | Li–Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder that predisposes carriers to cancer development. It is linked to germline mutations of the p53 tumor suppressor gene, which encodes a transcription factor (p53) that normally regulates the cell cycle and prevents genomic mutations. |
Medullary Sponge Kidney | Medullary sponge kidney is a congenital disorder of the kidneys characterized by cystic dilatation of the collecting tubules in one or both kidneys. Individuals with medullary sponge kidney are at increased risk for kidney stones and urinary tract infection. |
Glutaric acidemia type I | Glutaric acidemia type I is an inherited disorder in which the body can't process certain proteins properly. It is caused by deficiency of the enzyme glutaryl-CoA dehydrogenase, encoded by the GCDH gene. |
Thrombocythemia and Thrombocytosis | Thrombocythemia and thrombocytosis are conditions in which your blood has a higher than normal number of platelets. |
Bobble-head doll syndrome | Bobble-head doll syndrome is a rare neurological movement disorder in which patients, usually children around age 3, begin to bob their head and shoulders forward and back in a manner reminiscent of a bobblehead doll. |
gray platelet syndrome | Gray platelet syndrome is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis. |
Lung adenocarcinoma | Lung adenocarcinoma is a cancer that occurs due to abnormal and uncontrolled cell growth in the lungs. |
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