Browse plain-English disease and condition guides, including symptoms, causes, diagnosis, treatment options, prevention, and when to seek medical care.
Anal Anomalies–Porokeratosis Syndrome, often referred to as AAPS, is a rare medical condition that affects various aspects of a person’s health. In this comprehensive article, we...
Read article11β-HSD2 deficiency is a rare genetic condition in which the body cannot properly switch the hormone cortisol into its inactive form, cortisone, inside certain kidney cells....
Read article1p36 microdeletion syndrome (also called 1p36 deletion syndrome) is a genetic condition that starts before birth. A small piece of chromosome 1, from the short arm...
Read article1q21.1 deletion syndrome (also called 1q21.1 microdeletion) is a genetic disorder caused by the loss of a small segment of DNA on the long arm (q...
Read article1q21.1 duplication syndrome (also called 1q21.1 microduplication) is a chromosomal copy-number variant in which a small segment of genetic material on the long (q) arm of...
Read article1q21.1 recurrent microdeletion is a tiny missing piece of DNA on chromosome 1, at a place called “1q21.1.” In this condition, one copy of chromosome 1...
Read article2-methylacyl-CoA racemase deficiency is a very rare inherited metabolic disease. It happens when the body does not make enough working AMACR enzyme. This enzyme helps break...
Read article2,8-dihydroxyadenine (DHA) urolithiasis is a rare form of kidney stone disease. It happens when the body cannot recycle the purine base adenine in the normal “salvage”...
Read article2,8-dihydroxyadeninuria is a rare, inherited problem of purine recycling. Your body normally reuses adenine (a building block of DNA) using an enzyme called APRT (adenine phosphoribosyltransferase)....
Read article21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is a genetic disease that affects how the adrenal glands make important hormones called cortisol and aldosterone. The adrenal glands are...
Read article3-beta-hydroxy-delta-5-c27-steroid dehydrogenase deficiency is a very rare inherited liver disease. It is one of the bile acid synthesis disorders. In this condition, the liver cannot make...
Read article3-methylglutaconic aciduria type 2 is a rare, inherited condition that almost always affects boys. It is also called Barth syndrome. It happens because of a change...
Read articleATR-16 syndrome is an extremely rare genetic disorder in which affected individuals have a large loss of genetic material (monosomy) on chromosome 16 in which several...
Read articleAtaxia with vitamin E deficiency (AVED) is a rare inherited neurodegenerative disorder characterized by impaired ability to coordinate voluntary movements (ataxia) and disease of the peripheral...
Read articleAtaxia-telangiectasia (AT) is also known as (Louis-Bar Syndrome) a complex is a rare autosomal recessive genetic neurodegenerative disorder that is characterized by cutaneous telangiectasias, cerebellar atrophy...
Read articleAn astrocytoma is a tumor that arises from the star-shaped cells (astrocytes) that form the supportive tissue of the brain. Other supportive cells of the brain...
Read articleAsphyxiating thoracic dystrophy (ATD) is a very rare form of skeletal dysplasia that primarily affects the development of the bone structure of the chest (thorax) resulting...
Read articleAllergic bronchopulmonary aspergillosis (ABPA) is a common fungal infection in uncontrolled asthmatics, cystic fibrosis patients, and immunocompromised patients. Early diagnosis and rapid implementation of proper management...
Read articleAn aspergilloma is a fungus ball or mycetoma composed of Aspergillus hyphae along with cellular debris and mucus. It is a noninvasive type of chronic pulmonary...
Read articleAspergillus is a ubiquitous saprophyte in nature found in air, soil, and organic matter. Humans normally inhale the spore form of the fungi. However, the disease...
Read articleAspergillosis is a fungal infection caused by Aspergillus, a species of mold that is found all over the world and occurs in the form of chronic pulmonary...
Read articleAspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish descent but is also found, even more rarely, in other populations around...
Read articleAsherson’s syndrome is an extremely rare autoimmune disorder characterized by the development, over hours, days, or weeks, of rapidly progressive blood clots affecting multiple organ systems...
Read articleAsherman’s syndrome is a rare, acquired, gynecological disorder of the uterus(intrauterine adhesions or intrauterine synechiae) that occurs when scar tissue forms inside the uterus and/or the...
Read articleASAH1-related disorders are an extremely rare group of disorders caused by an alteration (mutation) in the ASAH1 gene. Alterations in this gene result in a deficiency of...
Read articleArthrogryposis is also known as distal arthrogryposis, pterygium syndrome is a general or descriptive term for the development of nonprogressive contractures affecting one or more areas...
Read articleArthrogryposis is also known as distal arthrogryposis, pterygium syndrome is a general or descriptive term for the development of nonprogressive contractures affecting one or more areas...
Read articleTakayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive inflammation and damage of one or...
Read articleTakayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive inflammation and damage of one or...
Read articleTakayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive inflammation and damage of one or...
Read articleTakayasu arteritis also known as pulseless disease, occlusive thromboaortopathy, and Martorell syndrome is a rare disorder characterized by the progressive inflammation and damage of one or...
Read articleArteriovenous malformation (AVM) is a vascular lesion that is a tangle of vessels of varying sizes in which there is one or more direct connections between...
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