The thalassemias are a group of Read More
Hemophilia is an X-linked genetic disorder caused Read More
Osteogenesis Imperfecta (OI) Read More
Muscular dystrophy (MD) is a group of more than 30 inherited Read More
Primary Immune Deficiencies (PID) or Read More
Sickle cell anemia is an inherited form of anemia. Read More
Pompe is a glycogen storage disorder caused Read More
Metabolism is a sequence of chemical Read More
GNE myopathy is a rare, autosomal recessive Read More
Biliary atresia is a rare disease affecting the liver Read More
Mucopolysaccharidosis (MPS) is causedRead More
The hereditary ataxias are a group of geneticRead More
Spinal Muscular Atrophy (SMA) is a genetic disorder leading Read More
Retinitis Pigmentosa is a group of genetically inherited Read More
Wolfram Syndrome also known by the acronym DIDMOAD is a genetic Read More
Lupus is a chronic, autoimmune disease that can lead to damage ofRead More
Primary Sclerosing Cholangitis (PSC) is a chronic disease Read More
Congenital adrenal hyperplasia (CAH) is a genetic disorder affecting the adrenal glands Read More
Mucolipidoses (ML) are a group of genetic, metabolic diseases which lead to Read More
Neuromyelitis Optica (NMO) is an autoimmune condition affecting the spinal cord Read More
Huntington Disease (HD) is a genetic, progressive brain disorder causing Read More
Cystic Fibrosis (CF) is a genetic, progressive condition causing chronic lung Read More
Guillain-Barré Syndrome (GBS) pronounced “gee-yah-buh-ray” is an autoimmune rare disorder Read More
Fibrodysplasia Ossificans Progressiva (FOP), is a rare autosomal dominant condition Read More
CIDP is a rare autoimmune neurological disorder in which there is Read More
Gaucher is one of the most common, frequently occurring Read More
SCA refers to a group of hereditary ataxias which are characterised by degeneration in the cerebellum and spinal cord..
Leukodystrophies are a group of rare, genetic disorders affecting the white matter in the brain. Read More
Phenylketonuria (PKU) is a rare, genetic disorder caused by a defect in the gene..
Idiopathic/Immune Thrombocytopenia (ITP) is a hematological...
Myelodysplastic syndrome or MDS is a group of diverse bone marrow disorders in which the marrow does not produce..
Transverse Myelitis (TM) is a neurological condition ....
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