Trusted information across 10,888 rare diseases — plain language, always cited, free for everyone.
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Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and more. Every claim is cited.
Data syncs range from 3x daily (news) to weekly (trials, FDA). Reports regenerate when data changes.
Showing 7,501-7,520 of 10,888 diseases
MONDO:0014252
Familial hypobetalipoproteinemia 1 is an inherited lipid disorder characterized by abnormally low levels of cholesterol and associated fat-soluble vit...
MONDO:0011505
Familial hypobetalipoproteinemia 2 is an inherited metabolic condition characterized by unusually low levels of lipids in the blood. It results from a...
MONDO:0018458
Familial hypocalciuric hypercalcemia (FHH), also known as familial benign hypercalcemia, is a genetic condition affecting calcium metabolism. It is ch...
MONDO:0007791
Familial hypocalciuric hypercalcemia 1 is a disorder of calcium regulation primarily characterized by elevated blood calcium levels despite low calciu...
MONDO:0007792
Familial hypocalciuric hypercalcemia 2 is a condition affecting calcium regulation in the body and is linked to a heterozygous mutation in the GNA11 g...
MONDO:0010926
Familial hypocalciuric hypercalcemia 3 is a condition characterized by abnormally high blood calcium levels that occur as a result of a mutation in th...
MONDO:0016638
Familial hypodysfibrinogenemia is a disorder affecting blood clotting that may lead to abnormal bleeding or clot formation. Although specific details...
MONDO:0015096
Familial hypofibrinogenemia is a coagulation disorder in which a reduced plasma fibrinogen concentration results in mild bleeding symptoms, particular...
MONDO:0016390
Familial hypoparathyroidism is a rare metabolic disorder characterized by abnormal calcium metabolism due to deficient secretion of parathormone. This...
MONDO:0015666
Familial idiopathic dilatation of the right atrium is a rare congenital heart malformation characterized by an unusually enlarged right atrium. The co...
MONDO:0600024
MONDO:0019006
Familial idiopathic steroid-resistant nephrotic syndrome is a kidney condition that presents as a form of nephrotic syndrome, typically with early ons...
MONDO:0019652
MONDO:0019654
MONDO:0019653
MONDO:0044816
MONDO:0010080
Familial infantile bilateral striatal necrosis is a severe neurodevelopmental condition that affects the deep brain structures, including the caudate...
MONDO:0011506
Familial infantile myoclonic epilepsy is a very rare genetic condition that affects the brain, leading to neonatal- to infancy‐onset myoclonic focal s...
MONDO:0017290
Familial intrahepatic cholestasis is an inherited disorder affecting the liver, characterized by impaired bile secretion. The condition arises from in...
MONDO:0016342
Familial isolated arrhythmogenic right ventricular dysplasia is a genetic heart muscle disorder that primarily affects the right ventricle and is asso...
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