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Genetic disorders

Chronic Granulomatous Disease: Exploring the Rare Immune Disorder

Chronic granulomatous disease (CGD) is a rare genetic condition where white blood cells, known as phagocytes, cannot effectively destroy certain bacteria and fungi. This makes individuals with CGD prone...

Hemolytic Uremic Syndrome: Causes, Symptoms & Care

Hemolytic uremic syndrome (HUS) is a rare yet potentially serious disorder characterized by damage to the kidney's blood...

Pseudohypoparathyroidism: Decoding the Rare Disorder

Pseudohypoparathyroidism (PHP) is a rare hereditary disorder characterized by the resistance or insensitivity of target organs to parathyroid...

Maple Syrup Urine Disease: A Rare Metabolic Challenge

Maple Syrup Urine Disease (MSUD) is a rare genetic disorder that affects how the body breaks down certain...

Prader-Willi Syndrome: Understanding the Genetic Disorder

What is Prader-Willi Syndrome? Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder affecting the metabolic, endocrine, and neurologic...

Chronic Granulomatous Disease: Exploring the Rare Immune Disorder

Chronic granulomatous disease (CGD) is a rare genetic condition where white blood cells, known as phagocytes, cannot effectively destroy certain bacteria and fungi. This...

Hemolytic Uremic Syndrome: Causes, Symptoms & Care

Hemolytic uremic syndrome (HUS) is a rare yet potentially serious disorder characterized by damage to the kidney's blood vessels. It is a type of...

Pseudohypoparathyroidism: Decoding the Rare Disorder

Pseudohypoparathyroidism (PHP) is a rare hereditary disorder characterized by the resistance or insensitivity of target organs to parathyroid hormone (PTH). The parathyroid glands are...

Maple Syrup Urine Disease: A Rare Metabolic Challenge

Maple Syrup Urine Disease (MSUD) is a rare genetic disorder that affects how the body breaks down certain amino acids. Amino acids are the...

Prader-Willi Syndrome: Understanding the Genetic Disorder

What is Prader-Willi Syndrome? Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder affecting the metabolic, endocrine, and neurologic systems due to abnormalities on chromosome...

Myotonia Congenita: Symptoms And Treatment

Myotonia Congenita (MC) is a rare inherited neuromuscular disorder in which the muscles are not able to relax after contraction. This results in muscle...