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 articleEncephalopathy due to prosaposin deficiency is an ultra-rare genetic brain disease. It is a lysosomal storage disease in the group called sphingolipidoses. In this disease, a...
Read articleCombined PSAP deficiency is a very rare inherited disease in which the body cannot make a normal protein called prosaposin, so all four helper proteins (saposins...
Read articleFamilial congenital hypopituitarism is a rare inherited condition where a child is born with a pituitary gland that does not make enough of several important hormones,...
Read articleCombined pancreatic lipase-colipase deficiency is a very rare inherited disease where the pancreas does not release enough of two special fat-digesting enzymes called pancreatic lipase and...
Read articleQrsl1-related combined oxidative phosphorylation defect is a very rare inherited disease that affects how the tiny “power stations” in our cells, called mitochondria, make energy. It...
Read articleGlutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect is a very rare, serious genetic disease that affects the mitochondria, which are the “power stations” inside...
Read articleCombined oxidative phosphorylation deficiency 40 (short name: COXPD40) is a very rare genetic disease that affects the mitochondria, the tiny “power stations” inside almost every cell....
Read articleSyndromic sensorineural deafness due to combined oxidative phosphorylation defect (COXPD) is a very rare genetic mitochondrial disease. In this condition, tiny “power stations” inside cells (mitochondria)...
Read articleSyndromic sensorineural deafness due to combined oxidative phosphorylation defect is a very rare genetic disease. In this condition, a baby is born with permanent inner-ear hearing...
Read articleCombined oxidative phosphorylation deficiency 34 (COXPD34) is a very rare inherited disease where the tiny “power stations” inside cells, called mitochondria, do not make enough energy....
Read articleEpistaxis is the medical word for a nosebleed. It means that blood is coming out from inside the nose, from small blood vessels in the lining...
Read articleA nosebleed is when blood comes out from inside the nose because tiny blood vessels (capillaries) in the nose lining break and leak. Doctors call this...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in TXN2 is a very rare genetic disease that damages the tiny power stations in our cells, called mitochondria....
Read articleCombined oxidative phosphorylation deficiency 29 (often shortened to COXPD29) is a very rare genetic disease that hurts how the body makes energy inside cells. It mainly...
Read articleNeonatal severe cardiopulmonary failure due to mitochondrial methylation defect is a very rare genetic disease that affects newborn babies. In this disease, the baby’s heart and...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in SLC25A26 is a very rare inherited mitochondrial disease. In this disease, both copies of a gene called SLC25A26...
Read articleCombined oxidative phosphorylation deficiency (often shortened to COXPD) is a group of very rare, inherited mitochondrial diseases. In this condition, several of the energy-making “machines” (called...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in MRPL3 is a very rare genetic disease. It is a type of mitochondrial disease. In this condition, the...
Read articleCombined oxidative phosphorylation defect type 9 (COXPD9) is a very rare inherited disease of the tiny “power stations” inside our cells, called mitochondria. In this disease,...
Read articleCombined oxidative phosphorylation deficiency caused by mutation in AARS2 is a very rare inherited disease that mainly damages the tiny “power stations” inside cells, called mitochondria....
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