Trusted information across 10,888 rare diseases — plain language, always cited, free for everyone.
Can't find your disease? Try searching by gene, symptom, or OMIM ID.
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Data syncs range from 3x daily (news) to weekly (trials, FDA). Reports regenerate when data changes.
Showing 8,681-8,700 of 10,888 diseases
MONDO:0000212
Hypercalcemia, infantile is an endocrine condition that presents in early infancy, typically between 28 days and one year of age. It is associated wit...
MONDO:0020739
Hypercalcemia, infantile, 1 is a condition that primarily affects infants and is characterized by abnormally high levels of calcium in the blood along...
MONDO:0014851
Hypercalcemia, infantile, 2 is a condition characterized by elevated calcium levels in infants due to a mutation in the SLC34A1 gene, which is pivotal...
MONDO:0001709
Hypercalcemic sarcoidosis is a form of sarcoidosis that is complicated by elevated blood calcium levels. Sarcoidosis is an inflammatory condition that...
MONDO:0004319
MONDO:0011802
MONDO:0007748
MONDO:0010182
Hypercarotenemia and vitamin A deficiency, autosomal recessive is a condition characterized by an imbalance in carotene metabolism that may lead to el...
MONDO:0100327
Hypercholanemia, familial is a condition that affects bile acid metabolism, leading to unusually high levels of bile acids in the blood. Although deta...
MONDO:0031446
MONDO:0031003
MONDO:0016203
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a metabolic condition that primarily affects liver function and cholesterol m...
MONDO:0011369
Hypercholesterolemia, autosomal dominant, 3 is a condition characterized by elevated cholesterol levels that is primarily caused by mutations in the P...
MONDO:0007751
Hypercholesterolemia, autosomal dominant, type B is an inherited lipid disorder characterized by significantly elevated levels of low-density lipoprot...
MONDO:0007750
Familial hypercholesterolemia, familial, 1 is an inherited disorder that affects cholesterol metabolism and can lead to abnormal blood lipid levels. V...
MONDO:0011374
Hypercholesterolemia, familial, 4 is an inherited lipid disorder that primarily affects cholesterol metabolism, leading to blood lipid abnormalities a...
MONDO:0012465
MONDO:0009108
Hyperdibasic aminoaciduria type 1 is a metabolic condition characterized by increased renal clearance of the amino acids lysine, ornithine, and argini...
MONDO:0017658
Hyperekplexia is a neurologic disorder characterized by pronounced startle responses to unexpected tactile or acoustic stimuli and increased muscle to...
MONDO:0007868
Hyperekplexia 1 is an inherited neurological condition primarily characterized by an exaggerated startle response and muscle stiffness. It is caused b...
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