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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 10,241-10,260 of 10,888 diseases

multiple congenital anomalies due to 14q32.2 maternally expressed gene defect

MONDO:0016779

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

multiple congenital anomalies due to 14q32.2 maternally expressed gene defect

multiple congenital anomalies due to 14q32.2 paternally expressed gene defect

multiple congenital anomalies/dysmorphic syndrome

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

multiple congenital anomalies/dysmorphic syndrome without intellectual disability

multiple congenital anomalies-hypotonia-seizures syndrome

multiple congenital anomalies-hypotonia-seizures syndrome 1

multiple congenital anomalies-hypotonia-seizures syndrome 2

multiple congenital anomalies-hypotonia-seizures syndrome 3

multiple cutaneous and mucosal venous malformations

multiple endocrine neoplasia

multiple endocrine neoplasia type 1

multiple endocrine neoplasia type 2

multiple endocrine neoplasia type 2A

multiple endocrine neoplasia type 2B

multiple endocrine neoplasia type 4

multiple epiphyseal dysplasia

multiple epiphyseal dysplasia, Al-Gazali type

multiple epiphyseal dysplasia, Beighton type

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