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 defect type 8 (often written as COXPD8) is a very rare, very serious genetic disease that affects the tiny “power plants” inside our...
Read articleSevere C12orf65-related combined oxidative phosphorylation defect is a very rare inherited disease of the mitochondria. Mitochondria are tiny “power stations” inside almost every cell, and they...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in C12orf65 is a very rare genetic disease of the mitochondria, the “power plants” inside our cells. [1] It...
Read articleC12orf65 combined oxidative phosphorylation deficiency is a very rare genetic disease that affects how the “power stations” of the cell (mitochondria) make energy. In this condition,...
Read articleCombined oxidative phosphorylation defect type 7 is a very rare, inherited disease that affects how the tiny “power stations” in our cells (mitochondria) make energy. [1]...
Read articleTUFM combined oxidative phosphorylation deficiency (also called combined oxidative phosphorylation deficiency type 4, COXPD4) is a very rare genetic disease of the mitochondria, the “power plants”...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in TUFM is a very rare genetic disease that affects how the tiny “power stations” of the cell, called...
Read articleCombined oxidative phosphorylation defect type 4 is a very rare genetic disease of the mitochondria, the tiny “power plants” inside our cells. In this condition, the...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in TRMT10C is a very rare inherited mitochondrial disease. In this disease, changes (mutations) in the TRMT10C gene damage...
Read articleCombined oxidative phosphorylation defect type 30 is an ultra-rare inherited disease of the mitochondria, which are the “power stations” inside each cell. In this disease, the...
Read articleCombined oxidative phosphorylation defect type 27 (COXPD27) is a very rare inherited disease where the “power stations” of the cell, called mitochondria, cannot make enough energy...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in CARS2 (also called combined oxidative phosphorylation deficiency 27, COXPD27) is a very rare genetic disease that affects how...
Read articleCombined oxidative phosphorylation defect type 27 (often shortened to COXPD27) is a very rare genetic disease that damages the tiny power stations inside our cells, called...
Read articlePeripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay (often shortened to PNSED) is a very rare genetic disease that mainly affects the nerves, muscles,...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in TRMT5 is a very rare genetic disease of the mitochondria. Mitochondria are tiny parts inside each cell that...
Read articleCombined oxidative phosphorylation defect type 26 (COXPD26) is a very rare inherited disease that affects how the “power stations” of the cell, called mitochondria, make energy....
Read articleCombined oxidative phosphorylation deficiency caused by mutation in MARS2 is a very rare inherited mitochondrial disease. In this condition, a mistake (variant) in both copies of...
Read articleCombined oxidative phosphorylation defect type 25 (COXPD25) is a very rare genetic mitochondrial disease. It affects how the “power stations” of the cell, called mitochondria, make...
Read articleCombined oxidative phosphorylation defect type 24 (short form: COXPD24) is a very rare genetic disease that affects the “power plants” of the cell, called mitochondria. In...
Read articleGTPBP3 combined oxidative phosphorylation deficiency is a very rare genetic disease that affects how the tiny “power stations” in our cells, called mitochondria, make energy. In...
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