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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.
12
authoritative sources — clinical, regulatory, scientific
10,888
rare conditions, continuously monitored
Daily
updates from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet…
Showing 3,241-3,260 of 10,888 diseases
MONDO:0013299
Chromosome 6q11-q14 deletion syndrome is a condition characterized by a deletion in a segment of chromosome 6, leading to a range of developmental and...
MONDO:0013025
Chromosome 6q24-q25 deletion syndrome, also known as 6q25 microdeletion syndrome, is a condition that has been recently described and is characterized...
MONDO:0700014
Chromosome 7 disorder is a chromosomal condition in which part or all of chromosome 7 is affected. The condition is characterized by chromosomal abnor...
MONDO:0015443
Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly in which extra, ring-shaped chromosomal material is present, leading to a...
MONDO:0700015
Chromosome 8 disorder is a chromosomal condition in which an abnormality affecting chromosome 8 is present. This condition is categorized as a chromos...
MONDO:0010852
Chromosome 8Q12.1-q21.2 deletion syndrome is a condition thought to affect multiple body systems, although detailed descriptions of its clinical prese...
MONDO:0013646
Chromosome 8q21.11 deletion syndrome is a condition caused by heterozygous overlapping microdeletions in the 8q21.11 region that primarily affects neu...
MONDO:0043452
Chromosome 8 trisomy is a chromosomal abnormality characterized by the presence of an extra copy of chromosome 8 in somatic cells. This condition repr...
MONDO:0700016
Chromosome 9 disorder is a chromosomal condition in which structural or numerical abnormalities involving chromosome 9 can lead to a diverse range of...
MONDO:0008013
Chromosome 9p deletion syndrome, also known as monosomy 9p, is a rare chromosomal anomaly that affects multiple organ systems including the craniofaci...
MONDO:0043678
Chromosome inversion disorder is a chromosomal rearrangement in which a segment of a chromosome is flipped 180 degrees and reinserted into its origina...
MONDO:0700027
Chromosome X disorder is a chromosomal condition where part of chromosome X is affected. It is categorized as a chromosomal disorder, and the precise...
MONDO:0010406
Chromosome Xp11.22 duplication syndrome is an X-linked condition that primarily affects neurodevelopment, with intellectual disability being a definin...
MONDO:0010428
Chromosome Xp11.23-p11.22 duplication syndrome is a very rare inborn error of vitamin B12 metabolism that falls under the category of methylmalonic ac...
MONDO:0010399
Chromosome Xp21 deletion syndrome is a condition that arises from a deletion affecting the short arm of the X chromosome. Although the full range of c...
MONDO:0859081
Chromosome Xq13 duplication syndrome is a condition characterized by duplications in a region of the X chromosome that appear to affect multiple organ...
MONDO:0010436
Chromosome Xq28 duplication syndrome is a condition that appears to involve an extra copy of a portion of the X chromosome, although the precise genet...
MONDO:0700028
Chromosome Y disorder is a chromosomal condition characterized by abnormalities affecting the Y chromosome, a key player in male development. The cond...
MONDO:0014528
Chronic atrial and intestinal dysrhythmia is a condition that affects both the cardiovascular and gastrointestinal systems, manifesting as a unique co...
MONDO:0015274
Chronic beryllium disease is a granulomatous, interstitial lung disease that occurs in individuals exposed to beryllium, often in occupational or envi...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.