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 articleLiver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome is a very rare inherited metabolic disease. It is also called alpha-methylacyl-CoA racemase deficiency, AMACR deficiency, or congenital bile acid synthesis defect...
Read articleIntrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid is a very rare inherited bile acid synthesis disorder. It is now usually called congenital...
Read articleAlpha-methyl-acyl-CoA racemase deficiency, often shortened to AMACR deficiency, is a very rare inherited metabolic disease. It happens when the body cannot make enough working alpha-methyl-acyl-CoA racemase...
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 articleCongenital bile acid synthesis defect 4, also called CBAS4 or AMACR deficiency, is a very rare inherited disorder caused by harmful changes in the AMACR gene....
Read articleCYP7B1 oxysterol 7-alpha-hydroxylase deficiency is a very rare inherited disease. It happens when both copies of the CYP7B1 gene do not work properly. This gene normally...
Read articleCongenital bile acid synthesis defect caused by mutation in CYP7B1 is a very rare inherited liver disease. Its best known medical name is congenital bile acid...
Read articleCongenital bile acid synthesis defect caused by mutation in AKR1D1 is also called congenital bile acid synthesis defect type 2, CBAS2, or delta-4-3-oxosteroid 5-beta-reductase deficiency. It...
Read articleAKR1D1 congenital bile acid synthesis defect is a very rare inherited liver and metabolism disease. Its usual formal name is congenital bile acid synthesis defect type...
Read articleCongenital bile acid synthesis defect 2 is a very rare inherited liver disease. It happens when the body cannot make normal bile acids in the right...
Read articleCongenital bile acid synthesis defect caused by mutation in HSD3B7 is a rare inherited liver and metabolism disease. It is also called congenital bile acid synthesis...
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 articlePerisylvian syndrome usually means congenital bilateral perisylvian syndrome, a rare brain development disorder. In this condition, the outer part of the brain around the Sylvian fissure...
Read articleCongenital bilateral perisylvian syndrome, often linked to bilateral perisylvian polymicrogyria, is a rare brain development disorder present before birth. In this condition, the brain area around...
Read articleCongenital bilateral aplasia of vas deferens, also called congenital bilateral absence of the vas deferens, means a male is born without both vas deferens tubes. These...
Read articleCongenital bilateral agenesis of vas deferens, usually called CBAVD, means a man is born without both vas deferens. The vas deferens are the two tubes that...
Read articleCongenital bilateral absence of vas deferens, often shortened to CBAVD, is a condition present from birth in which both vas deferens tubes do not develop normally....
Read articleCongenital aortopulmonary septal defect is a very rare birth defect of the heart. It is also called an aortopulmonary window. In this condition, there is an...
Read articleCongenital aortopulmonary artery fistula is a very rare heart blood vessel defect present from birth. In very simple words, it means there is an abnormal passage...
Read articleCongenital aortopulmonary window is a rare heart defect present at birth. In this condition, there is an abnormal opening between the ascending aorta and the main...
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