Archives: Conditions A-Z
Hemophilia B
Hemophilia B (Christmas Disease): A Comprehensive Guide What is Hemophilia B? Hemophilia B, also known as Christmas disease (ORPHA:98879), is…
Hemophilia A
What is Hemophilia A? Hemophilia A is a rare inherited bleeding disorder caused by a deficiency or dysfunction of clotting…
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…