Type: Genetic
Wilson Disease
What is Wilson Disease? Wilson Disease (ORPHA:905) is a rare genetic disorder that causes copper to accumulate in the liver,…
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome What is Ehlers-Danlos Syndrome? Ehlers-Danlos Syndrome (EDS) is a rare group of inherited connective tissue disorders that affect…
Marfan Syndrome
Marfan Syndrome: A Comprehensive Guide to This Genetic Connective Tissue Disorder What is Marfan Syndrome? Marfan syndrome is a rare…
Huntington Disease
Huntington Disease What is Huntington Disease? Huntington Disease (HD) is a rare, inherited neurodegenerative disorder that causes the progressive breakdown…
Cystic Fibrosis
Cystic Fibrosis What is Cystic Fibrosis? Cystic fibrosis (CF) is a life-threatening genetic disorder that primarily affects the respiratory and…
Phenylketonuria
Phenylketonuria (PKU) What is Phenylketonuria? Phenylketonuria (PKU) is a rare genetic metabolic disorder that affects the body's ability to break…
Fabry Disease
What is Fabry Disease? Fabry disease (ORPHA:324) is a rare, inherited metabolic disorder caused by deficiency or absence of the…
Gaucher Disease
What is Gaucher Disease? Gaucher disease is a rare genetic disorder that affects the body's ability to break down a…