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Genes Diseases
Pompe Disease: A metabolic disorder affecting the muscles.
What is the Pompe Disease ? Pompe disease is a rare genetic disorder that affects the lysosomal enzyme acid alpha-glucosidase…
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Genes Diseases
Niemann-Pick Disease: A metabolic disorder affecting the liver, spleen, and brain.
What is the Niemann-Pick Disease ? Niemann-Pick disease is a rare genetic disorder that affects the metabolism of sphingomyelin, a…
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Genes Diseases
Gaucher Disease: A metabolic disorder affecting the spleen, liver, and bone marrow.
What is the Gaucher Disease ? Gaucher disease is a rare genetic disorder that affects the spleen, liver, and bone…
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Genes Diseases
Polycystic Kidney Disease: A disorder causing cysts to form in the kidneys.
What is the Polycystic Kidney Disease ? Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of…
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Genes Diseases
Muscular Dystrophy: A group of muscle-wasting disorders.
What is the Muscular Dystrophy ? Muscular dystrophy (MD) is a group of genetic disorders that cause progressive muscle weakness…
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Genes Diseases
Fragile X Syndrome: A genetic disorder causing intellectual disability and physical features.
What is the Fragile X Syndrome ? Fragile X syndrome is a genetic disorder that affects the X chromosome. It…
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Genes Diseases
Thalassemia: A blood disorder characterized by abnormal hemoglobin production.
What is the Thalassemia ? Thalassemia is a genetic blood disorder characterized by the reduced production of hemoglobin, a protein…
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Genes Diseases
Albinism: A lack of melanin pigment in the skin, hair, and eyes.
What is the Albinism ? Albinism is a genetic disorder that reduces the production of melanin, the pigment that gives…
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Genes Diseases
Retinitis Pigmentosa: A progressive eye disorder causing night blindness and loss of peripheral vision.
What is the Retinitis Pigmentosa ? Retinitis pigmentosa (RP) is a group of inherited eye diseases that cause the degeneration…
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Genes Diseases
Duchenne Muscular Dystrophy: A progressive muscle-wasting disorder.
What is the Duchenne Muscular Dystrophy ? DMD is a progressive genetic disorder that affects muscles. It is caused by…
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