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 articleChronic cold agglutinin disease is a long-lasting blood disease where your immune system wrongly attacks your own red blood cells, mainly when your body or your...
Read articleCold agglutinin disease (CAD) is a rare kind of autoimmune hemolytic anemia. This means your immune system makes a wrong antibody that attacks your own red...
Read articleCohen-Gibson syndrome is a very rare genetic condition. It starts before birth or in early childhood. Children with this syndrome usually grow faster and bigger than...
Read articleCohen syndrome is a very rare genetic condition that affects many parts of the body, especially growth, learning, eyes, blood cells, and body shape. It usually...
Read articleCognitive impairment – coarse facies – heart defects – obesity – pulmonary involvement – short stature – skeletal dysplasia syndrome is a very rare genetic disease....
Read articleCogan syndrome is a rare disease where the body’s own defense system (the immune system) wrongly attacks parts of the eyes and inner ears. This attack...
Read articleComponent of oligomeric Golgi complex 8 congenital disorder of glycosylation (often shortened to COG8-CDG) is a very rare inherited disease that affects how the body adds...
Read articleCarbohydrate deficient glycoprotein syndrome type IIh is a very rare inherited metabolic disease. It belongs to a group of diseases called congenital disorders of glycosylation (CDG)....
Read articleCOG8-congenital disorder of glycosylation (COG8-CDG) is a very rare genetic disease. It happens when the COG8 gene does not work in the normal way. This gene...
Read articleComponent of oligomeric Golgi complex 7 congenital disorder of glycosylation (COG7-CDG) is a very rare genetic disease that affects how the body adds sugar chains to...
Read articleCarbohydrate deficient glycoprotein syndrome type IIe is an extremely rare inherited disease of sugar processing inside the body’s cells. In today’s names it is usually called...
Read articleCOG7-congenital disorder of glycosylation (COG7-CDG) is a very rare inherited disease that starts before birth and affects almost every part of the body. In this condition,...
Read articleComponent of oligomeric Golgi complex 6–congenital disorder of glycosylation (short name COG6-CDG) is a very rare genetic disease that affects how sugar chains are added to...
Read articleCOG6-congenital disorder of glycosylation (COG6-CDG, also called CDG2L) is a very rare genetic disease. It affects how the body adds sugar chains (glycans) to proteins inside...
Read articleComponent of oligomeric Golgi complex 5 congenital disorder of glycosylation (COG5-CDG) is a very rare inherited disease. It belongs to a group of conditions called congenital...
Read articleCarbohydrate-deficient glycoprotein syndrome type III is an old name for a group of very rare, inherited diseases where the body does not add sugar chains to...
Read articleComponent of oligomeric Golgi complex 4 congenital disorder of glycosylation (COG4-CDG) is a very rare inherited metabolic disease. It happens when the COG4 gene does not...
Read articleCarbohydrate-deficient glycoprotein syndrome type 2j is now usually called COG4-congenital disorder of glycosylation (COG4-CDG) or CDG type IIj (CDG2J). It is a very rare inherited disease....
Read articleCOG4-congenital disorder of glycosylation (COG4-CDG) is a very rare inherited disease. It happens when there are harmful changes (mutations) in a gene called COG4. This gene...
Read articleComponent of oligomeric Golgi complex 1 congenital disorder of glycosylation (often shortened to COG1-CDG) is an extremely rare inherited disease in which the body cannot add...
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