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Rare Disease Intelligence — 10,888 conditions monitored | Kisho | Kisho

Open data · 12 authoritative sources

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What’s known, in plain language.

Plain-language summaries of 10,888 rare conditions, drawn from MONDO, GeneReviews, ClinVar, FDA, NIH, ClinicalTrials.gov, PubMed, and 5 other public sources. Free, sourced, never gated.

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12

authoritative sources — clinical, regulatory, scientific

10,888

rare conditions, continuously monitored

Daily

updates from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet…

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Showing 5,761-5,780 of 10,888 diseases

familial hypercholesterolemia

MONDO:0005439

Familial hypercholesterolemia is an inheritable form of hyperlipidemia featuring an excess of lipids in the blood. Recognized subtypes of the conditio...

familial hyperinflammatory lymphoproliferative immunodeficiency

MONDO:0850069

Familial hyperinflammatory lymphoproliferative immunodeficiency is a very rare condition that appears to involve dysregulation of the immune system an...

familial hyperinsulinism

MONDO:0017182

Familial hyperinsulinism (FHI) is a condition characterized by excessive insulin production, leading to hypoglycemia. It is caused by inherited modifi...

familial hyperlipidemia

MONDO:0001336

Familial hyperlipidemia is a form of hyperlipidemia resulting from an inherited genomic alteration that disrupts normal lipid metabolism. Variants in...

LPLLIPCGPIHBP1+4

familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

MONDO:0100251

Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome is a condition characterized by abnormal phosphate regulation th...

familial hyperprolactinemia

MONDO:0014250

Familial hyperprolactinemia is a genetic endocrine disorder characterized by persistently high levels of prolactin in the blood, occurring in multiple...

familial hyperreninemic hypoaldosteronism type 2

MONDO:0011754

Familial hyperreninemic hypoaldosteronism type 2 is a condition that affects the hormonal regulation of blood pressure, with individuals potentially e...

familial hyperthyroidism due to mutations in TSH receptor

MONDO:0012203

Familial hyperthyroidism due to mutations in TSH receptor, also known as familial non‐immune hyperthyroidism, is a rare endocrine condition that impac...

familial hypertrophic cardiomyopathy

MONDO:0024573

Familial hypertrophic cardiomyopathy is a cardiac condition characterized by an abnormal thickening of the heart muscle, which may affect the heart’s...

CORINNEXNHADHA+7

familial hypertryptophanemia

MONDO:0010907

Familial hypertryptophanemia is an extremely rare metabolic condition affecting tryptophan metabolism, and it is characterized by intellectual deficit...

familial hypoaldosteronism

MONDO:0018541

Familial hypoaldosteronism is a rare inherited disorder resulting from aldosterone synthase deficiency, a defect that disrupts the final step of aldos...

familial hypobetalipoproteinemia 1

MONDO:0014252

Familial hypobetalipoproteinemia 1 is an inherited lipid disorder characterized by abnormally low levels of cholesterol and associated fat-soluble vit...

familial hypobetalipoproteinemia 2

MONDO:0011505

Familial hypobetalipoproteinemia 2 is an inherited metabolic condition characterized by unusually low levels of lipids in the blood. It results from a...

familial hypocalciuric hypercalcemia

MONDO:0018458

Familial hypocalciuric hypercalcemia (FHH), also known as familial benign hypercalcemia, is a genetic condition affecting calcium metabolism. It is ch...

familial hypocalciuric hypercalcemia 1

MONDO:0007791

Familial hypocalciuric hypercalcemia 1 is a disorder of calcium regulation primarily characterized by elevated blood calcium levels despite low calciu...

familial hypocalciuric hypercalcemia 2

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...

familial hypocalciuric hypercalcemia 3

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...

familial hypodysfibrinogenemia

MONDO:0016638

Familial hypodysfibrinogenemia is a disorder affecting blood clotting that may lead to abnormal bleeding or clot formation. Although specific details...

familial hypofibrinogenemia

MONDO:0015096

Familial hypofibrinogenemia is a coagulation disorder in which a reduced plasma fibrinogen concentration results in mild bleeding symptoms, particular...

familial hypoparathyroidism

MONDO:0016390

Familial hypoparathyroidism is a rare metabolic disorder characterized by abnormal calcium metabolism due to deficient secretion of parathormone. This...

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Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.