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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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Kisho provides public health information only — not medical advice. Always consult your healthcare provider.

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 7,761-7,780 of 10,888 diseases

inborn disorder of purine or pyrimidine metabolism

MONDO:0019254

Find your disease.What’s known, in plain language.

inborn disorder of purine or pyrimidine metabolism

inborn disorder of pyridoxine metabolism

inborn disorder of pyrimidine metabolism

inborn disorder of serine family metabolism

inborn disorder of the gamma-glutamyl cycle

inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide

inborn disorder of tryptophan metabolism

inborn error of biotin metabolism

inborn error of immunity

inborn errors of metabolism

inborn glycerol kinase deficiency

inborn metal metabolism disorder

inborn mitochondrial metabolism disorder

inborn mitochondrial myopathy

inborn organic aciduria

inborn serine deficiency

inborn vitamin metabolic disorder

incessant infant ventricular tachycardia

inclusion body myopathy and brain white matter abnormalities

inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

Find your disease.
What’s known, in plain language.