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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 3,161-3,180 of 10,888 diseases
MONDO:0700021
Chromosome 14 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0013272
Chromosome 14q11-q22 deletion syndrome is characterized by developmental delay, hypotonia, and facial dysmorphism. The condition is classified as spor...
MONDO:0700022
Chromosome 15 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0014294
Chromosome 15q11.2 deletion syndrome is a rare genetic condition characterized by a partial monosomy affecting chromosome 15. It is associated with a...
MONDO:0012774
Chromosome 15q13.3 microdeletion syndrome is an autosomal dominant condition characterized by a range of neurodevelopmental disorders. While no specif...
MONDO:0013256
Chromosome 15q24 deletion syndrome, also known as 15q24 microdeletion syndrome, is a rare chromosomal anomaly caused by a deletion ranging from 1.7 to...
MONDO:0013672
Chromosome 15q25 deletion syndrome is a condition caused by a deletion in a segment of chromosome 15 that results in a variety of developmental and co...
MONDO:0012964
Chromosome 15q26-qter deletion syndrome is a rare chromosomal anomaly characterized by pre- and postnatal growth restriction, developmental delay, and...
MONDO:0700023
Chromosome 16 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0014362
Chromosome 16 inversion, 0.45-Mb is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0013847
Chromosome 16p11.2 duplication syndrome is a rare chromosomal anomaly caused by a partial duplication of the short arm of chromosome 16. It is charact...
MONDO:0007631
Chromosome 16p12.1 deletion syndrome, 520kb, is characterized by a deletion of 520 kb at the 16p12.1 locus. Clinically, individuals with this conditio...
MONDO:0013320
Chromosome 16p12.2-p11.2 deletion syndrome is a recently described condition characterized primarily by global developmental delay, intellectual disab...
MONDO:0022752
chromosome 16p13.3 deletion syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0013273
Chromosome 16p13.3 duplication syndrome is a rare chromosomal anomaly characterized by a partial duplication of the short arm of chromosome 16. This c...
MONDO:0859210
Chromosome 16q12 duplication syndrome is characterized by an autosomal dominant inheritance pattern. While a specific genetic basis has not yet been i...
MONDO:0013798
Chromosome 16q22 deletion syndrome is characterized by a range of clinical features, though a specific genetic basis has not been identified. The inhe...
MONDO:0022180
Chromosome 16 trisomy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0020583
Chromosome 17 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0013415
Chromosome 17p13.1 deletion syndrome is characterized by an autosomal dominant inheritance pattern, meaning that a single copy of the mutated gene in...
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