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

Open data · 12 authoritative sources

Find your disease.
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.

Search by:Disease•Gene•Symptom•Treatment•PAG•OMIM/Orphanet ID

Commonly searched:Cystic Fibrosis Duchenne Huntington's ALS Sickle Cell

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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 2,081-2,100 of 10,888 diseases

Bernard-Soulier syndrome

MONDO:0009276

Bernard-Soulier syndrome is an inherited platelet disorder characterized by bleeding tendencies and abnormal platelet function. Recognized subtypes ha...

Bernard-Soulier syndrome, type A2, autosomal dominant

MONDO:0007930

Bernard-Soulier syndrome, type A2, autosomal dominant is a bleeding disorder characterized by a mild to moderate bleeding tendency and platelet abnorm...

BEST1-related dominant retinopathy

MONDO:0700238

BEST1-related dominant retinopathy is an ocular condition within the spectrum of bestrophinopathies that primarily affects the retina and is associate...

BEST1-related recessive retinopathy

MONDO:0700239

BEST1-related recessive retinopathy is an inherited retinal disorder characterized by degenerative changes in the retina that can lead to visual impai...

BEST1-related vitreoretinochoroidopathy

MONDO:0700240

BEST1-related vitreoretinochoroidopathy is an ocular condition affecting the retina, retinal pigment epithelium, and choroid, and is part of the spect...

beta-ketothiolase deficiency

MONDO:0008760

Beta-ketothiolase deficiency is an inherited metabolic disorder that disrupts the normal processing of ketone bodies and the catabolism of the amino a...

beta-mannosidosis

MONDO:0009562

Beta-mannosidosis is a very rare lysosomal storage disorder that interferes with how cells break down certain complex sugars, leading to multi-system...

beta thalassemia

MONDO:0019402

Beta thalassemia is a blood disorder characterized by a deficiency or absence in the production of beta globin chains, which are essential for forming...

beta-thalassemia and related diseases

MONDO:0017145

beta-thalassemia and related diseases is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited...

beta-thalassemia HBB/LCRB

MONDO:0013517

Beta-thalassemia HBB/LCRB is a blood disorder characterized by abnormal hemoglobin production due to pathogenic variants in the HBB gene, which is ess...

beta-thalassemia intermedia

MONDO:0016487

Beta-thalassemia intermedia (BTI) is a form of beta-thalassemia characterized by mild to moderate anemia that may not require regular blood transfusio...

beta-thalassemia major

MONDO:0016486

Beta-thalassemia major is a severe form of beta-thalassemia characterized by significant anemia that necessitates regular red blood cell transfusions....

beta-thalassemia-X-linked thrombocytopenia syndrome

MONDO:0010745

Beta-thalassemia-X-linked thrombocytopenia syndrome is a blood disorder affecting red blood cells and platelets, characterized by features of mild bet...

beta-ureidopropionase deficiency

MONDO:0013164

Beta-ureidopropionase deficiency is an inborn error of pyrimidine metabolism that affects how the body breaks down the nucleic acid building blocks ur...

Bethlem myopathy

MONDO:0008029

Bethlem myopathy is a disorder affecting the muscles and connective tissues that is characterized by progressive muscle weakness and joint stiffness,...

COL6A2COL6A1COL12A1+1

Bethlem myopathy 1A

MONDO:0024530

Bethlem myopathy 1A is a form of muscular dystrophy that primarily affects the skeletal and musculoskeletal systems. It is caused by pathogenic varian...

Bethlem myopathy 1B

MONDO:0958233

Bethlem myopathy 1B is a collagen disorder affecting the musculature and skeletal system, characterized by progressive muscle weakness and joint contr...

Bethlem myopathy 1C

MONDO:0958234

Bethlem myopathy 1C is a disorder that primarily affects the muscles and skeletal system and is part of the continuum of collagen VI-related dystrophi...

Bethlem myopathy 2

MONDO:0034022

Bethlem myopathy 2 is a condition that affects the musculature and skeletal system, leading to muscle weakness and connective tissue abnormalities. It...

BH4-deficient hyperphenylalaninemia A

MONDO:0009863

BH4-deficient hyperphenylalaninemia A is an inherited metabolic disorder that primarily affects the nervous system. It is caused by mutations in the P...

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