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56,125 results found
You searched for “X” in All. RX Search found 56,125 result(s) and checks doctor-selected, exact-title, synonym, and related matches.
3-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....
3-methyl-3-hydroxybutyric acidemia (the condition most newborn-screening programs and medical references call 2-methyl-3-hydroxybutyric acidemia, or HSD10 disease / MHBD deficiency). It’s a very rare, inherited problem with...
2-methyl-3-hydroxybutyricacidemia is a rare inherited metabolic disease. Your body cannot properly break down the amino acid isoleucine and cannot use ketone bodies well. Ketone bodies are...
B-cell expansion with nuclear factor kappa-light-chain enhancer of activated B cells and T-cell anergy disease is a rare, inherited immune system disorder. “BENTA” stands for B-cell...
B-cell Expansion with NF-κB and T-cell Anergy is a rare, inherited immune disorder caused by gain-of-function (GOF) mutations in the gene CARD11. CARD11 sits inside lymphocytes (B...
Benign Partial Epilepsy of Infancy with Complex Partial Seizures—historically “benign familial (or non-familial) infantile seizures,” sometimes described as “self-limited infantile epilepsy (SeLIE)”—is a focal epilepsy syndrome...
Benign paroxysmal torticollis of infancy is a short-lasting, repeatable head-tilt problem that starts in babies. During an “attack,” a baby’s head tilts to one side (sometimes...
Benign paroxysmal tonic upgaze of childhood with ataxia is a rare, early-life movement and eye-movement condition. “Paroxysmal” means it comes in bursts or spells. “Tonic upgaze”...
Exomphalos–Macroglossia–Gigantism Syndrome is an older name for Beckwith-Wiedemann syndrome (BWS). It is a congenital overgrowth condition. Babies are often large at birth. Many have a large...
X-linked recessive Becker muscular dystrophy (BMD) is a genetic muscle disease. It happens when a change (mutation) in the DMD gene lowers the amount or quality...
Aldosteronism with hyperplasia of the adrenal cortex means your adrenal glands (small glands that sit on top of the kidneys) have grown more cells than normal...
X-linked cardioskeletal myopathy and neutropenia is a rare, inherited disease that mainly affects boys. It harms the heart muscle (cardiomyopathy), skeletal muscles (weakness and low tone),...
