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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 3,181-3,200 of 10,888 diseases
MONDO:0013182
Chromosome 17p13.3 duplication syndrome is a very rare neurodevelopmental and multi-system condition caused by having an extra piece of genetic materi...
MONDO:0012944
Chromosome 17P13.3, telomeric, duplication syndrome is characterized by an autosomal dominant inheritance pattern. While no specific genes have been i...
MONDO:0022754
Chromosome 17p deletion is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0013357
Chromosome 17q11.2 deletion syndrome, 1.4Mb is a rare and severe form of neurofibromatosis type 1 (NF1) characterized by a range of clinical features...
MONDO:0013797
Chromosome 17q12 deletion syndrome, sometimes called 17q12 microdeletion syndrome, is a multi-system condition caused by the loss of a small segment o...
MONDO:0013796
Chromosome 17q12 duplication syndrome is a rare chromosomal anomaly characterized by a range of developmental and neurological challenges. This condit...
MONDO:0013298
chromosome 17q21.31 duplication syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limi...
MONDO:0013238
Chromosome 17q23.1-q23.2 deletion syndrome is characterized by a range of developmental issues and physical anomalies. Key clinical features include g...
MONDO:0700125
Chromosome 18 disorder is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0022755
Chromosome 18 mosaic monosomy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0007800
Chromosome 18p deletion syndrome, also known as monosomy 18p, is a chromosomal disorder characterized by the deletion of all or part of the short arm...
MONDO:0012255
chromosome 18 pericentric inversion is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0011147
Chromosome 18q deletion syndrome is a condition resulting from a chromosomal deletion that leads to the loss of genetic material from the long arm of...
MONDO:0700024
Chromosome 19 disorder is a chromosomal condition in which one of the 23 pairs of chromosomes in the body, chromosome 19, is affected. This condition...
MONDO:0013336
Chromosome 19p13.13 deletion syndrome, also known as 19p13.13 microdeletion syndrome, is a rare chromosomal disorder resulting from a partial deletion...
MONDO:0013090
Chromosome 19q13.11 deletion syndrome is a condition caused by a deletion on a segment of chromosome 19 that affects multiple body systems. It is char...
MONDO:0700107
Chromosome 19q13.11 deletion syndrome, distal is a congenital condition resulting from a deletion in the distal region of the long arm of chromosome 1...
MONDO:0014972
Chromosome 19q13.11 deletion syndrome, proximal, is a chromosomal disorder caused by the deletion of the proximal region on chromosome 19q13.11. The c...
MONDO:0700008
Chromosome 1 disorder is a chromosomal abnormality in which changes affecting chromosome 1 are observed. This condition falls under the category of ch...
MONDO:0013396
Chromosome 1p32-p31 deletion syndrome is a rare chromosomal anomaly resulting from a partial deletion of the short arm of chromosome 1. This condition...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.