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 articleHELLP syndrome means Hemolysis, Elevated Liver enzymes, and Low Platelets otherwise referred to as HELLP syndrome, has historically been classified as a complication or progression of...
Read articleBernard-Soulier syndrome is a rare inherited blood clotting disorder that is characterized by unusually giant platelet cells, thrombocytopenia, and prolonged bleeding time. Affected individuals tend to...
Read articleWiskott-Aldrich syndrome (WAS) is a rare X-linked disorder that classically includes the characteristic triad of immunodeficiency, thrombocytopenia, and eczema. It results from a genetic mutation in...
Read articleEvans syndrome is an autoimmune condition that presents with two or more cytopenias, which commonly include autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP), with or...
Read articleHyperesthesia is a condition that involves an abnormal increase in sensitivity to stimuli of the sense. Stimuli of the senses can include sound that one hears, foods that one tastes,...
Read articleTransverse myelitis is a demyelinating and immune-mediated inflammatory disorder of the spinal cord, the part of the central nervous system that sends impulses from the brain...
Read articleResting tremor occurs when the muscle is relaxed, such as when the hands are resting on the lap. With this disorder, a person’s hands, arms, or legs...
Read articleCerebellar tremor is typically a slow, high-amplitude (easily visible) tremor of the extremities (e.g., arm, leg) that occurs at the end of a purposeful movement such...
Read articlePhysiologic tremor/ Physiologic tremor occurs in all healthy individuals. It is rarely visible to the eye and typically involves a fine shaking of both of the...
Read articleShaky legs syndrome, also known as Orthostatic Tremor (OT), is a progressive neurological movement disorder, characterized by high-frequency tremors, predominantly in the legs when in a...
Read articleTrigeminal Neuralgia Type 2 (TN2)/Trigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that affects the trigeminal or 5th cranial nerve, one of the...
Read articleTrigeminal Neuralgia Type 1 (TN1)/Trigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that affects the trigeminal or 5th cranial nerve, one of the...
Read articleTrifacial Neuralgia/Trigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that affects the trigeminal or 5th cranial nerve, one of the most widely distributed...
Read articleTic Douloureux/Trigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that affects the trigeminal or 5th cranial nerve, one of the most widely distributed...
Read articleFothergill Disease/Trigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that affects the trigeminal or 5th cranial nerve, one of the most widely distributed...
Read articleTrigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that affects the trigeminal or 5th cranial nerve, one of the most widely distributed nerves...
Read articlePhakomatosis TS is also known as Cerebral sclerosis, Bourneville Phakomatosis, Bourneville disease, Tuberous sclerosis, tuberous sclerosis complex is a neurocutaneous disorder (phakomatosis) characterized by the development of multiple benign...
Read articleBourneville Pringle Syndrome is also known as Cerebral sclerosis, Bourneville Phakomatosis, Bourneville disease, Tuberous sclerosis, tuberous sclerosis complex is a neurocutaneous disorder (phakomatosis) characterized by the development of multiple benign...
Read articleSclerosis tuberose is also known as Cerebral sclerosis, Bourneville Phakomatosis, Bourneville disease, Tuberous sclerosis, tuberous sclerosis complex is a neurocutaneous disorder (phakomatosis) characterized by the development of multiple benign tumors...
Read articleCerebral sclerosis is also known as Bourneville Phakomatosis, Bourneville disease, Tuberous sclerosis, tuberous sclerosis complex is a neurocutaneous disorder (phakomatosis) characterized by the development of multiple benign tumors of the...
Read article
