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 articleCombined oxidative phosphorylation deficiency caused by mutation in GTPBP3 is a very rare inherited mitochondrial disease. In medical databases it is usually called combined oxidative phosphorylation...
Read articleCombined oxidative phosphorylation defect type 23 (COXPD23) is a very rare genetic mitochondrial disease. It happens when both copies of a gene called GTPBP3 do not...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in TARS2 is a very rare genetic mitochondrial disease. In medical books it is usually called combined oxidative phosphorylation...
Read articleCombined oxidative phosphorylation defect type 21 (often written as COXPD21) is a very rare genetic disease that damages the tiny power plants inside our cells, called...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in VARS2 is a very rare genetic disease. Doctors also call it Combined oxidative phosphorylation deficiency 20 (COXPD20). In...
Read articleCombined oxidative phosphorylation defect type 20 (often written as COXPD20) is a very rare genetic disease that affects how the mitochondria in body cells make energy....
Read articleCombined oxidative phosphorylation deficiency caused by mutation in MRPS16 is a very rare, serious genetic disease of the mitochondria, the “power plants” inside our cells.[1] In...
Read articleCombined oxidative phosphorylation defect type 2 (often written as combined oxidative phosphorylation deficiency 2 or COXPD2) is a very rare, very severe genetic disease of the...
Read articleCombined oxidative phosphorylation deficiency type 17 (often written as COXPD17) is a very rare genetic disease that affects the “power stations” of the cell, called mitochondria....
Read articleCombined oxidative phosphorylation deficiency caused by mutation in ELAC2 is a very rare genetic disease that mostly affects the heart and brain.[1] It belongs to a...
Read articleCombined oxidative phosphorylation defect type 17 (also called COXPD17) is a very rare genetic disease that affects the tiny “power stations” inside cells, called mitochondria. In...
Read articleMTFMT combined oxidative phosphorylation deficiency is a rare inherited disease of the tiny “power plants” inside our cells, called mitochondria. In this disease, a gene named...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in MTFMT (also called combined oxidative phosphorylation defect type 15 or COXPD15) is a very rare genetic disease that...
Read articleCombined oxidative phosphorylation defect type 15 is a very rare inherited disease that affects how the “power stations” of the cell, called mitochondria, make energy. In...
Read articleFARS2 combined oxidative phosphorylation deficiency is a very rare mitochondrial disease. It happens when a gene called FARS2 does not work properly, so the tiny “power...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in FARS2 is a very rare genetic disease that affects how the “power plants” of the cell, called mitochondria,...
Read articleCombined oxidative phosphorylation defect type 14 (often written as COXPD14) is a very rare, serious genetic disease that affects how the tiny “power stations” inside our...
Read articlePNPT1 combined oxidative phosphorylation deficiency type 13 (often shortened to COXPD13) is a very rare genetic disease that mainly affects how the body’s cells make energy...
Read articleCombined oxidative phosphorylation defect type 13 (often shortened to COXPD13) is a very rare genetic disease that affects how the tiny “power plants” inside our cells,...
Read articleRMND1 combined oxidative phosphorylation deficiency type 11 is a very rare genetic mitochondrial disease. It happens when both copies of a gene called RMND1 do not...
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