Rare Disease Intelligence

Localized pulmonary fibrosis is a condition in which a specific area of the lung is replaced by connective tissue. This replacement leads to scarring...

Localized scleroderma is a condition in which the skin becomes thickened and hardened due to fibrosis, leading to the formation of distinctive plaques...

Logopenic progressive aphasia (LPA) is a variant of primary progressive aphasia that primarily affects language and communication. It is characterized...

Long QT syndrome 10 is a cardiac condition characterized by abnormalities in the heart's electrical system that can lead to life-threatening arrhythmi...

Long QT syndrome 13 is a cardiac electrical disorder characterized by a prolonged QT interval on the electrocardiogram and a predisposition to arrhyth...

Long QT syndrome 14 is an inherited cardiac arrhythmia characterized by an abnormally prolonged QT interval on an electrocardiogram, which predisposes...

Long QT syndrome 16 is a disorder primarily affecting the heart’s electrical conduction system, characterized by abnormal cardiac repolarization and c...

Long QT syndrome 2 is an inherited cardiac condition characterized by a prolonged QT interval on the electrocardiogram, which can predispose individua...

Long QT syndrome 3 is a cardiac arrhythmia disorder that stems from mutations in the SCN5A gene, which encodes a key sodium channel protein in heart c...

Long QT syndrome 8 is a cardiac condition affecting the electrical activity of the heart, most seen as a prolonged QT interval on an electrocardiogram...