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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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10,888

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Showing 1,721-1,740 of 10,888 diseases

autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

MONDO:0014710

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

autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency

autosomal recessive metabolic cerebellar ataxia

autosomal recessive multiple pterygium syndrome

autosomal recessive myogenic arthrogryposis multiplex congenita

autosomal recessive nonsyndromic congenital nuclear cataract

autosomal recessive nonsyndromic hearing loss 101

autosomal recessive nonsyndromic hearing loss 102

autosomal recessive nonsyndromic hearing loss 103

autosomal recessive nonsyndromic hearing loss 104

autosomal recessive nonsyndromic hearing loss 12

autosomal recessive nonsyndromic hearing loss 124

autosomal recessive nonsyndromic hearing loss 13

autosomal recessive nonsyndromic hearing loss 14

autosomal recessive nonsyndromic hearing loss 15

autosomal recessive nonsyndromic hearing loss 16

autosomal recessive nonsyndromic hearing loss 17

autosomal recessive nonsyndromic hearing loss 18A

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