Diseases


Thalassemia image

Thalassemia: Beta Thalassemia and Variants

The thalassemias are a group of Read More

Hemophilia image

Hemophilia and Other Bleeding Disorders

Hemophilia is an X-linked genetic disorder caused Read More

Osteogenesis-imperfecta

Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI) Read More

Muscular-dystrophy

Muscular Dystrophy

Muscular dystrophy (MD) is a group of more than 30 inherited Read More

primary-immune-deficiencie

Primary Immune Deficiencies

Primary Immune Deficiencies (PID) or Read More

Gaucher

Gaucher

Gaucher is one of the most common, frequently occurring Read More

pompe

Pompe

Pompe is a glycogen storage disorder caused Read More

IEM

Inborn Errors of Metabolism

Metabolism is a sequence of chemical Read More

GNE myopathy

GNE Myopathy

GNE myopathy is a rare, autosomal recessive Read More

Biliary Atresia

Biliary Atresia

Biliary atresia is a rare disease affecting the liver Read More

mucopolysaccharidosis

Mucopolysaccharidosis

Mucopolysaccharidosis (MPS) is causedRead More

hereditary ataxias

Hereditary Ataxias

The hereditary ataxias are a group of geneticRead More

Spinal Muscular Atrophy

Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a genetic disorder leading Read More

retinitis pigmentosa

Retinitis Pigmentosa

Retinitis Pigmentosa is a group of genetically inherited Read More

wolfram syndrome

Wolfram Syndrome

Wolfram Syndrome also known by the acronym DIDMOAD is a genetic Read More

lupus

Lupus (Systemic lupus erythematosus)

Lupus is a chronic, autoimmune disease that can lead to damage ofRead More

primary-sclerosing-cholangitis-psc

Primary Sclerosing Cholangitis (PSC)

Primary Sclerosing Cholangitis (PSC) is a chronic disease Read More

congenital-adrenal-hyperplasia

Congenital adrenal hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a genetic disorder affecting the adrenal glands Read More

mucolipidoses

mucolipidoses

Mucolipidoses (ML) are a group of genetic, metabolic diseases which lead to Read More