Rare Disease Intelligence

Intermittent maple syrup urine disease is a metabolic condition characterized by asymptomatic periods under normal circumstances and episodes of metab...

Internal carotid agenesis is a rare developmental malformation in which the internal carotid artery does not form, resulting in either a unilateral or...

Interstitial cystitis (IC) is a rare and chronic condition characterized by debilitating symptoms including urinary frequency, urgency, and pelvic pai...

Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory condition that affects the lungs and is marked by a wide range of outc...

Interstitial lung disease specific to infancy is a condition affecting the lungs in very early life. It is characterized by abnormalities in lung stru...

Interstitial myocarditis is an inflammatory condition that affects the heart, specifically involving the interstitial tissue of the myocardium. It is...

Interventricular septum aneurysm is a rare congenital heart malformation affecting the structure of the heart, specifically involving an aneurysmal di...

Intestinal botulism is a rare acquired neuromuscular junction disease caused by the production of botulinum neurotoxins following intestinal colonizat...

Intestinal disorder is a condition that affects the small or large intestine and may present as either a non-neoplastic or neoplastic process. Genetic...

Intestinal hypomagnesemia 1 is an inherited electrolyte disorder characterized by low levels of magnesium that subsequently lead to secondary low calc...

Intestinal neuroendocrine neoplasm is a tumor arising from neuroendocrine cells in the small or large intestine and encompasses both well differentiat...

Intestinal neuroendocrine tumor G1 is a well differentiated, low grade neuroendocrine tumor that originates in the small or large intestine. It is cha...

Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is a disorder affecting the gastrointestinal system that results in mecon...

Intestinal polyposis syndrome is a condition characterized by the development of multiple polyps throughout the intestine and encompasses forms such a...

Intestinal pseudo-obstruction is a digestive disorder in which the intestinal muscles fail to contract properly, leading to symptoms that mimic a true...

Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked is a disorder that affects the gastrointestinal system and involves neurological...