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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 2,301-2,320 of 10,888 diseases
MONDO:0007218
Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy, primarily affecting the 2nd and 5th digits. This condit...
MONDO:0019678
Brachydactyly type A5 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0019679
Brachydactyly type A7 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0019676
Brachydactyly type B is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0007220
Brachydactyly type B1 is a congenital skeletal condition primarily affecting the development of the fingers, particularly the distal phalanges. It is...
MONDO:0012658
Brachydactyly type B2 is a very rare inherited difference in hand and foot development that primarily affects the bones of the fingers and toes. It is...
MONDO:0007221
Brachydactyly type C is a skeletal condition that primarily affects the bones of the hand, leading to shortened and abnormally shaped fingers. It is a...
MONDO:0007222
Brachydactyly type D (BDD) is a genetic condition characterized by short and broad terminal phalanges of the thumbs and big toes. This condition is ca...
MONDO:0019677
Brachydactyly type E is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0007223
Brachydactyly type E1 is a condition caused by mutations in the HOXD13 gene, which is inherited in an autosomal dominant manner. This means that a sin...
MONDO:0013244
Brachydactyly type E2 is a condition characterized by abnormalities in the development of the fingers and toes, with some individuals also experiencin...
MONDO:0007224
brachydactyly, type E, with atrial septal defect, type 2 is an extremely rare condition. Because few cases have been documented, detailed clinical inf...
MONDO:0007230
Brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome is a very rare condition that affects the development of the bones and nails. People with...
MONDO:0015262
Brachyolmia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.
MONDO:0011018
Brachyolmia-amelogenesis imperfecta syndrome is a very rare genetic condition caused by changes in the LTBP3 gene. It affects bone and dental developm...
MONDO:0013360
Brachyolmia, Maroteaux type, is classified as an autosomal recessive skeletal disorder characterized by short trunk and short stature, along with gene...
MONDO:0010070
Brachyolmia type 1, Hobaek type, is characterized by an autosomal recessive inheritance pattern. This condition is marked by disproportionate short-tr...
MONDO:0010074
Brachyolmia type 1, Toledo type is characterized by an autosomal recessive inheritance pattern. While a clinical definition is not available, the cond...
MONDO:0007231
Brachytelephalangy-dysmorphism-Kallmann syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information...
MONDO:0012032
Braddock syndrome is a rare malformation condition that has been described in two siblings. It involves multiple congenital abnormalities that form a...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.