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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 9,701-9,720 of 10,888 diseases

microcephalic primordial dwarfism due to ZNF335 deficiency

MONDO:0014043

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

microcephalic primordial dwarfism due to ZNF335 deficiency

microcephalic primordial dwarfism, Toriello type

microcephaly

microcephaly 11, primary, autosomal recessive

microcephaly 12, primary, autosomal recessive

microcephaly 13, primary, autosomal recessive

microcephaly 14, primary, autosomal recessive

microcephaly 15, primary, autosomal recessive

microcephaly 16, primary, autosomal recessive

microcephaly 17, primary, autosomal recessive

microcephaly 18, primary, autosomal dominant

microcephaly 19, primary, autosomal recessive

microcephaly 1, primary, autosomal recessive

microcephaly 20, primary, autosomal recessive

microcephaly 21, primary, autosomal recessive

microcephaly 22, primary, autosomal recessive

microcephaly 23, primary, autosomal recessive

microcephaly 24, primary, autosomal recessive

microcephaly 25, primary, autosomal recessive

microcephaly 26, primary, autosomal dominant

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