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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

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Showing 10,741-10,760 of 10,888 diseases

neurodevelopmental disorder with ataxia, hypotonia, and microcephaly

MONDO:0032816

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

neurodevelopmental disorder with ataxia, hypotonia, and microcephaly

neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism

neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects

neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia

neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies

neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities

neurodevelopmental disorder with dysmorphic facies and variable seizures

neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia

neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination

neurodevelopmental disorder with hearing loss and spasticity

neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

neurodevelopmental disorder with hypotonia and characteristic brain abnormalities

neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language

neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia

neurodevelopmental disorder with involuntary movements

neurodevelopmental disorder with language impairment and behavioral abnormalities

neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder

neurodevelopmental disorder with microcephaly and dysmorphic facies

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