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Genes Diseases
Galactosemia: A metabolic disorder affecting the metabolism of galactose.
What is the Galactosemia ? Galactosemia is a rare genetic disorder that affects the body’s ability to metabolize galactose, a…
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Genes Diseases
Tyrosinemia: A metabolic disorder affecting the metabolism of amino acids.
What is the Tyrosinemia ? Tyrosinemia is a rare genetic disorder that affects the way the body breaks down an…
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Genes Diseases
Homocystinuria: A metabolic disorder affecting the metabolism of amino acids.
Homocystinuria: A metabolic disorder affecting the metabolism of amino acids. What is the Homocystinuria ? Homocystinuria is a rare genetic…
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Genes Diseases
Maple Syrup Urine Disease: A metabolic disorder affecting the breakdown of amino acids.
What is the Maple Syrup Urine Disease ? Maple named for the distinctive maple syrup-like odor of the urine of…
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Genes Diseases
Hemolytic Uremic Syndrome (HUS): A disorder causing kidney failure.
What is the Hemolytic Uremic Syndrome (HUS) ? Hemolytic uremic syndrome (HUS) is a serious condition that affects the kidneys,…
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Genes Diseases
Corneal Dystrophy: A disorder affecting the cornea of the eye.
What is the Corneal Dystrophy ? Corneal dystrophy is a group of inherited eye conditions that affect the cornea, the…
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Genes Diseases
Bardet-Biedl Syndrome: A disorder affecting vision, obesity, and intellectual disability.
What is the Bardet-Biedl Syndrome? Bardet-Biedl Syndrome (BBS) is a rare genetic disorder characterized by a combination of features affecting…
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Genes Diseases
Alport Syndrome: A disorder affecting the kidneys and ears.
What is the Alport Syndrome ? Alport syndrome is a rare genetic disorder that affects the kidneys, ears, and eyes.…
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Genes Diseases
Waardenburg Syndrome: A disorder affecting hearing, skin, and hair color.
What is the Waardenburg Syndrome ? Waardenburg syndrome is a rare genetic condition that affects the eyes, hair, skin, and…
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Genes Diseases
Charcot-Marie-Tooth Disease: A progressive nerve disorder affecting the hands and feet.
What is the Charcot-Marie-Tooth Disease ? Charcot-Marie-Tooth Disease (CMT) is a hereditary neurological disorder that affects the peripheral nerves, which…
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