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

NeuromyelitisOptica

Neuromyelitis Optica

Neuromyelitis Optica (NMO) is an autoimmune condition affecting the spinal cord Read More

Huntington Disease

Huntington Disease

Huntington Disease (HD) is a genetic, progressive brain disorder causing Read More

cystic-fibrosis

Cystic Fibrosis

Cystic Fibrosis (CF) is a genetic, progressive condition causing chronic lung Read More