Browse medical articles by letter, category, and search. Built for large health libraries.
Before reading RX Patient Tools Use these quick guides before reading the article, or return to them when you need help preparing questions for a doctor....
Definition3-oxothiolase deficiency is a rare, inherited metabolic disorder. The body cannot properly break down the amino acid isoleucine. The body also cannot use ketone bodies well....
Definition3C syndrome, also known as Ritscher–Schinzel syndrome or cranio-cerebello-cardiac (CCC) dysplasia, is a rare autosomal recessive disorder characterized by a classic triad of craniofacial anomalies, cerebellar...
Definition3q subtelomere deletion syndrome is another name for chromosome 3q29 microdeletion syndrome, a rare genetic condition where a very small piece is missing from the end...
Definition3q29 recurrent microdeletion syndrome is a rare genetic condition. In this condition, a tiny piece is missing (deleted) from the long arm of chromosome 3, in...
Definition4-layered lissencephaly is a “smooth brain” condition where the outer part of the brain (the cerebral cortex) does not form normal folds (gyri) and grooves (sulci),...
Definition4p- syndrome, also known as Wolf-Hirschhorn syndrome, is a rare genetic condition that affects individuals from birth. In this article, we’ll explore 4p- syndrome in simple,...
Definition5-amino-4-imidazole carboxamide ribosiduria is an ultra-rare, inherited metabolic disease that affects how the body makes purines, the building blocks of DNA, RNA, and energy molecules. The...
Definition6-Pyruvoyl-Tetrahydrobiopterin Synthase (PTPS) Deficiency is a rare genetic condition that reduces the body’s supply of tetrahydrobiopterin (BH4). BH4 is a natural helper molecule (a “cofactor”). Your...
Definition6p subtelomeric deletion syndrome (also called chromosome 6pter-p24 deletion syndrome, distal deletion 6p, 6p25 microdeletion syndrome or distal monosomy 6p) is a rare genetic condition where...
DefinitionAA-amyloidosis is a disease where an abnormal protein called AA (amyloid A) slowly builds up in body tissues and organs. This protein comes from another protein...
DefinitionAagenaes syndrome is a rare genetic disorder that affects the lymphatic system, causing various health issues. In this comprehensive guide, we will break down this condition...
