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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 1,461-1,480 of 10,888 diseases

autosomal dominant centronuclear myopathy

MONDO:0008048

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

autosomal dominant centronuclear myopathy

autosomal dominant cerebellar ataxia

autosomal dominant cerebellar ataxia, deafness and narcolepsy

autosomal dominant cerebellar ataxia type I

autosomal dominant cerebellar ataxia type III

autosomal dominant cerebellar ataxia type IV

autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation

autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

autosomal dominant Charcot-Marie-Tooth disease type 2K

autosomal dominant Charcot-Marie-Tooth disease type 2M

autosomal dominant Charcot-Marie-Tooth disease type 2W

autosomal dominant childhood-onset proximal spinal muscular atrophy

autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

autosomal dominant chondrodysplasia punctata

autosomal dominant coarctation of aorta

autosomal dominant combined immunodeficiency due to ERBIN deficiency

autosomal dominant combined immunodeficiency due to partial IL6ST deficiency

autosomal dominant complex spastic paraplegia

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