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 8,661-8,680 of 10,888 diseases
MONDO:0032796
Hyper-IgE recurrent infection syndrome 4, autosomal recessive is a multisystem condition that affects immune regulation, skeletal development, craniof...
MONDO:0800131
MONDO:0030069
Hyper-IgE recurrent infection syndrome 5, autosomal recessive is an immune dysregulation condition characterized by elevated interleukin 6 and IgE lev...
MONDO:0018037
Hyper-IgE syndrome is a condition characterized by elevated serum IgE levels, chronic skin inflammation, and recurrent respiratory infections. It is a...
MONDO:0957807
MONDO:0003947
Hyper-IgM syndrome is a primary immunodeficiency disorder that impairs the immune system’s ability to produce a diverse range of antibodies. This diso...
MONDO:0010626
Hyper-IgM syndrome type 1 is an immunodeficiency disorder characterized by a failure in immunoglobulin class switching, which leads to decreased level...
MONDO:0011528
Hyper-IgM syndrome type 2 is an immunodeficiency disorder characterized by impaired immunoglobulin class switch recombination and a lack of immunoglob...
MONDO:0011735
Hyper-IgM syndrome type 3 is an immunodeficiency disorder in which the body is unable to produce fully mature B cells, a process that is compromised b...
MONDO:0011985
Hyper-IgM syndrome type 4 is an immunodeficiency disorder characterized by an abnormal antibody class switching process that affects the immune system...
MONDO:0011971
Hyper-IgM syndrome type 5 is an immunodeficiency disorder caused by mutations in the UNG gene, which plays an important role in antibody class switch...
MONDO:0009378
Hyper-beta-alaninemia is a very rare metabolic condition characterized by an abnormal accumulation of beta amino acids in the body, which can have neu...
MONDO:0014875
Hyperaldosteronism, familial, type IV is an endocrine disorder characterized by an overproduction of aldosterone that leads to high blood pressure. Th...
MONDO:0015903
Hyperalphalipoproteinemia is a genetic condition characterized by unusually high levels of high-density lipoprotein in the blood. It is described as a...
MONDO:0009377
Hyperammonemia due to N-acetylglutamate synthase deficiency is a urea cycle disorder resulting from deficient activity of the N-acetylglutamate syntha...
MONDO:0014332
MONDO:0006789
MONDO:0009381
Hyperbilirubinemia, conjugated, type 3 is a liver-related condition characterized by an abnormal buildup of conjugated bilirubin in the bloodstream, w...
MONDO:0009382
Hyperbilirubinemia, shunt, primary is a condition that affects the liver and its ability to process bilirubin, often leading to clinical signs such as...
MONDO:0013595
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