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 articleAngelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities; absence or near absence of speech; inability to coordinate...
Read articleNeural tube defects are the most common severe central nervous system anomalies, only second to cardiovascular abnormalities resulting in congenital morbidity and mortality. The nervous system...
Read articleAnencephaly is a term that refers to the incomplete development of the brain, skull, and scalp and is part of a group of birth defects called...
Read articleThe intrinsic factor (IF) is a glycoprotein produced by the parietal cells (oxyntic cells) located at the gastric body and fundus. Intrinsic factor plays a crucial...
Read articlePernicious anemia is a rare blood disorder characterized by the inability of the body to properly utilize vitamin B12, from a deficiency of cobalamin (vitamin B12),...
Read articleMyelophthisic anemia is anemia characterized by the presence of immature erythrocytes in the peripheral blood due to the infiltration (crowding out) of the bone marrow by...
Read articleMegaloblastic anemia is a heterogeneous group of macrocytic anemias characterized by the presence of large red blood cell precursors called megaloblasts in the bone marrow.[rx] which the...
Read articleAutoimmune hemolytic anemia is a rare disorder characterized by the premature destruction (hemolysis) of red blood cells at a rate faster than they can be replaced....
Read articleSickle cell anemia is an inherited disorder of the globin chains that causes hemolysis and chronic organ damage. This activity reviews the pathophysiology, presentation, complications, diagnosis,...
Read articleChronic anemia also called the anemia of inflammation, is a condition that can be associated with many different underlying disorders including chronic illnesses such as cancer, certain...
Read articleAnemia of chronic disease, also called the anemia of inflammation, is a condition that can be associated with many different underlying disorders including chronic illnesses such...
Read articleAndersen-Tawil syndrome is sometimes referred to as long QT syndrome 7 because some individuals in early reports of the disorder had a prolonged QT interval, which...
Read articleGlycogen Storage Disease (GSD) belongs to a group of rare genetic hereditary metabolic disorders of glycogen metabolism, known as glycogen storage diseases is characterized by a triad...
Read articleAndersen disease belongs to a group of rare genetic hereditary metabolic disorders of glycogen metabolism, known as glycogen storage diseases is characterized by a triad of episodic...
Read articleAnaplastic astrocytoma is a rare malignant brain tumor. Astrocytomas are tumors that develop from certain star-shaped brain cells called astrocytes. Astrocytes and similar cells form tissue...
Read articleAmyotrophic lateral sclerosis (ALS) also known as “Lou Gehrig disease, is a neurodegenerative disorder of the motor neurons characterized by the progressive degeneration and eventual death...
Read articleAmyloidosis is a rare heterogeneous acquired or hereditary systemic group of disorders caused by a build-up of an abnormal protein called amyloid in organs and tissues...
Read articleAmniotic fluid embolism (AFE) is an extremely rare, but life-threatening obstetric emergency characterized by sudden cardiorespiratory collapse and disseminated intravascular coagulation followed by severe coagulopathy and...
Read articleAmniotic band syndrome is a well-known condition potentially associated with a variety of different birth defects that comprises various congenital anomalies, which include disruption, deformation, and...
Read articleAmelogenesis imperfecta (AI) refers to a group of rare, inherited disorders characterized by abnormal incomplete enamel formation or calcification of the enamel and characterized by loss...
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