Trusted information across 10,888 rare diseases — plain language, always cited, free for everyone.
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Data syncs range from 3x daily (news) to weekly (trials, FDA). Reports regenerate when data changes.
Showing 9,321-9,340 of 10,888 diseases
MONDO:0015947
Inherited ichthyosis is a group of Mendelian disorders of cornification that affect most or all of the skin, leading to thickened, scaly, and hyperker...
MONDO:0017337
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, chronic disorder that primarily affects adrenal function in earl...
MONDO:0019284
MONDO:0002525
Inherited lipid metabolism disorder is a genetic metabolic condition caused by an enzyme deficiency that hampers the oxidation of fatty acids for ener...
MONDO:0018424
Inherited lipoic acid biosynthesis defect is an inherited metabolic disorder caused by disruptions in the lipoate biosynthetic process. Genetic varian...
MONDO:0024237
The inherited neurodegenerative disorder is characterized by a progressive degeneration and atrophy of the nervous system. Although precise prevalence...
MONDO:0019182
Inherited obesity is a condition characterized by an abnormal accumulation of body fat due to genetic influences. It is associated with changes in gen...
MONDO:0021272
Inherited orthostatic hypotension is a condition in which individuals experience a significant drop in blood pressure upon standing, leading to sympto...
MONDO:0019142
Inherited porphyria refers to a group of eight hereditary metabolic disorders that affect porphyrin and heme metabolism. The condition is characterize...
MONDO:0012901
MONDO:0019852
Inherited primary ovarian failure is a condition affecting the ovaries, where ovarian function declines prematurely due to changes in the individual’s...
MONDO:0100323
MONDO:0100091
Inherited pseudoxanthoma elasticum is a condition in which calcium and other minerals accumulate in the elastic fibers of the skin, eyes, and blood ve...
MONDO:0023224
Inherited reflex epilepsy, also known as hereditary reflex epilepsy, is a form of epilepsy in which seizures are triggered by specific stimuli due to...
MONDO:0015962
Inherited renal tubular disease is a genetic condition affecting the kidney tubules, which play an important role in maintaining electrolyte and fluid...
MONDO:0019118
Inherited retinal dystrophy is a form of retinal degeneration caused by inherited changes in the genome that affect the normal function of the retina....
MONDO:0020704
Inherited rippling muscle disease is a rare neuromuscular disorder that primarily affects skeletal muscle function. The condition is characterized by...
MONDO:0020099
Inherited sideroblastic anemia is a condition characterized by abnormal iron accumulation in the precursors of red blood cells, often resulting in ine...
MONDO:0010118
MONDO:0100241
Inherited thrombocytopenia is a condition characterized by a reduced number of platelets, which are essential for blood clotting. This condition is as...
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