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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.
Kisho provides public health information only — not medical advice. Always consult your healthcare provider.
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authoritative sources — clinical, regulatory, scientific
10,888
rare conditions, continuously monitored
Daily
updates from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet…
Showing 1-20 of 10,888 diseases
MONDO:0975905
10p13-p14 deletion syndrome is a condition resulting from a deletion in the chromosomal region 10p13-p14, although detailed descriptions of the affect...
MONDO:0975904
10p15 microdeletion syndrome is a condition caused by a small deletion on the short arm of chromosome 10. The clinical presentation and affected syste...
MONDO:0017180
10q22.3q23.3 microduplication syndrome is a chromosomal condition characterized by the duplication of a segment on the long arm of chromosome 10. The...
MONDO:0017580
11p15.4 microduplication syndrome is a very rare chromosomal disorder characterized by partial autosomal trisomy or tetrasomy that primarily affects t...
MONDO:0018632
11q22.2q22.3 microdeletion syndrome is a chromosomal deletion disorder that can affect multiple body systems, with neurodevelopmental challenges being...
MONDO:0017781
12p12.1 microdeletion syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0019784
12q14 microdeletion syndrome is a condition characterized by mild intellectual deficit, failure to thrive, short stature, and osteopoikilosis, a disti...
MONDO:0017334
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly resulting from a partial deletion on the long arm of chromosome 12. This condition is...
MONDO:0018474
13q12.3 microdeletion syndrome is a rare chromosomal anomaly that primarily affects neurodevelopment, with affected individuals often exhibiting moder...
MONDO:0016835
14q11.2 microduplication syndrome is a rare chromosomal anomaly resulting from an extra copy of genetic material in the 14q11.2 region. This condition...
MONDO:0016833
14q12 microdeletion syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0018429
14q24.1q24.3 microdeletion syndrome is a condition caused by a small deletion in a segment of chromosome 14 that may impact multiple body systems. It...
MONDO:0014707
14q32 duplication syndrome is a rare genetic condition that occurs when a person has an extra copy of a small section of chromosome 14. This chromosom...
MONDO:0012081
15q11q13 microduplication syndrome is a complex neurodevelopmental condition that primarily affects the nervous system. It is characterized by a dupli...
MONDO:0014822
15q14 microdeletion syndrome is a chromosomal condition characterized by developmental delay, short stature, and distinctive facial features. It is cl...
MONDO:0017806
15q overgrowth syndrome is a chromosomal disorder resulting from a partial autosomal trisomy or tetrasomy, and it presents with a distinct pattern of...
MONDO:0016834
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly that arises from a partial duplication of the short arm of chromosome 16. This co...
MONDO:0044621
16p12.1p12.3 triplication syndrome is a chromosomal anomaly that results from the partial duplication of the short arm of chromosome 16. The syndrome...
MONDO:0016836
16p13.11 microdeletion syndrome is a recently described chromosomal disorder characterized by developmental delay, microcephaly, epilepsy, short statu...
MONDO:0016837
16p13.11 microduplication syndrome is a condition characterized by a chromosomal duplication in the 16p13.11 region, and it is associated with a range...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.