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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 3,201-3,220 of 10,888 diseases
MONDO:0060677
Chromosome 1p35 deletion syndrome is a genetic condition caused by a deletion affecting the short arm of chromosome 1, leading to a constellation of c...
MONDO:0032933
Chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant is a condition that affects multiple organ systems, with prominent inv...
MONDO:0011929
Chromosome 1p36 deletion syndrome is a chromosomal anomaly that affects multiple systems, including the central nervous system and heart. It is charac...
MONDO:0859155
Chromosome 1p36 deletion syndrome, proximal is a condition caused by a deletion affecting a portion of chromosome 1, leading to a complex, multi-syste...
MONDO:0012914
Chromosome 1q21.1 deletion syndrome is a recurrent chromosomal deletion syndrome that presents with a broad range of clinical manifestations, particul...
MONDO:0012915
Chromosome 1q21.1 duplication syndrome is a condition resulting from an extra copy of a small segment on chromosome 1, leading to a range of neurodeve...
MONDO:0012927
Chromosome 1q41-q42 deletion syndrome is a chromosomal anomaly that primarily affects development, leading to severe global developmental delay and in...
MONDO:0022756
Chromosome 1q deletion is a chromosomal abnormality caused by a missing portion of the long arm of chromosome 1. The clinical features largely depend...
MONDO:0043085
chromosome 1, uniparental disomy 1q12 q21 is an extremely rare condition. Because few cases have been documented, detailed clinical information is lim...
MONDO:0700025
Chromosome 20 disorder is a chromosomal condition that involves an abnormality of chromosome 20. It is classified as a chromosomal anomaly rather than...
MONDO:0022757
Chromosome 20 trisomy is a condition where an individual has an extra full or partial copy of chromosome 20 in some or all cells. The mosaic form, in...
MONDO:0700124
Chromosome 21 disorder is a chromosomal abnormality that affects the structure or number of chromosome 21. It is defined by an anomaly involving chrom...
MONDO:0700026
Chromosome 22 disorder is a chromosomal condition in which chromosome 22 is affected. It is defined as a chromosomal disorder, and while the specific...
MONDO:0022758
Chromosome 22, monosome mosaic refers to a condition in which a mosaic pattern is observed for chromosome 22, meaning that some cells in the body cont...
MONDO:0012740
Chromosome 22q11.2 deletion syndrome, distal, is a multi-system condition caused by the loss of a small segment of genetic material on the long arm of...
MONDO:0012020
Chromosome 22q11.2 microduplication syndrome is a condition characterized by a duplication of a specific region on chromosome 22, which is the same re...
MONDO:0014235
Chromosome 22q13 duplication syndrome is a condition arising from an extra copy of genetic material in the terminal region of chromosome 22q13, primar...
MONDO:0022760
Chromosome 22q deletion refers to the loss of a portion of the long arm of chromosome 22. This condition arises from a chromosomal deletion rather tha...
MONDO:0700009
Chromosome 2 disorder is a chromosomal condition in which an abnormality involving chromosome 2 is present. Although specific clinical features are no...
MONDO:0013309
Chromosome 2p12-p11.2 deletion syndrome is a condition resulting from a deletion in a specific segment of chromosome 2 that leads to a constellation o...
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