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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

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

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Showing 10,821-10,840 of 10,888 diseases

neuromuscular disease caused by qualitative or quantitative defects of alpha-actin

MONDO:0016193

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

neuromuscular disease caused by qualitative or quantitative defects of alpha-actin

neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan

neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)

neuromuscular disease caused by qualitative or quantitative defects of dysferlin

neuromuscular disease caused by qualitative or quantitative defects of dystrophin

neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins

neuromuscular disease caused by qualitative or quantitative defects of nebulin

neuromuscular disease caused by qualitative or quantitative defects of perlecan

neuromuscular disease caused by qualitative or quantitative defects of plectin

neuromuscular disease caused by qualitative or quantitative defects of protein SERCA1

neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1

neuromuscular disease caused by qualitative or quantitative defects of telethonin

neuromuscular disease caused by qualitative or quantitative defects of titin

neuromuscular disease caused by qualitative or quantitative defects of TRIM32

neuromuscular disease caused by qualitative or quantitative defects of tropomyosin

neuromuscular disorder, congenital, with dysmorphic facies

neuromuscular junction disease

neuromyelitis optica

neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

neuromyelitis optica spectrum disorder with anti-MOG antibodies

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