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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 301-320 of 10,888 diseases
MONDO:0008712
Acrocraniofacial dysostosis is a very rare condition described in two sisters. It is a type of acrofacial dysostosis that involves differences in the...
MONDO:0008713
Acrodermatitis enteropathica is a rare inherited condition in which a severe zinc deficiency occurs. This is because the body has trouble absorbing zi...
MONDO:0019797
Acrodysostosis is a rare primary bone dysplasia that affects the development of the bones, particularly in the limbs and face. It is characterized by...
MONDO:0007044
Acrodysostosis 1 with or without hormone resistance is an autosomal dominant skeletal dysplasia that primarily affects bone growth and endocrine funct...
MONDO:0013822
Acrodysostosis 2 with or without hormone resistance is a rare condition characterized by skeletal abnormalities that occur due to a mutation in the PD...
MONDO:0018237
Information about acrofacial dysostosis is currently limited for this condition. At this time, details about the overall presentation and background o...
MONDO:0007045
Acrofacial dysostosis, Catania type is a very rare condition that affects the development of the face and limbs. It is noted for causing mild growth p...
MONDO:0014651
Acrofacial dysostosis Cincinnati type is a genetic condition that is defined by a mutation in the POLR1A gene. This means that a change in this gene l...
MONDO:0018980
Acrofacial dysostosis, Kennedy-Teebi type is a rare condition that affects the face and limbs. It is characterized by features such as a small head (m...
MONDO:0011154
Acrofacial dysostosis, Palagonia type is a very rare condition that has been described in a family from the Sicilian village of Palagonia. People with...
MONDO:0021764
Acrofacial dysostosis Preis type is a rare condition that has been described in one patient or family. This condition involves abnormalities in the de...
MONDO:0008714
Acrofacial dysostosis Rodriguez type is a rare condition characterized by multiple malformations. It mainly affects the face and limbs, with a severe...
MONDO:0008673
Acrofacial dysostosis, Weyers type (WAD) is a rare genetic disorder that affects the development of the bones of the face, hands, and feet. This condi...
MONDO:0008715
Acrofrontofacionasal dysostosis is a congenital malformation syndrome. It is characterized by facial and skeletal anomalies that are present from birt...
MONDO:0100044
Acrofrontofacionasal dysostosis 1 is a very rare condition with limited available information. The condition is listed in medical databases like OMIM...
MONDO:0009402
Acrofrontofacionasal dysostosis 2 is a very rare syndrome that affects the structure of the face, nose, and skull. The condition is characterized by a...
MONDO:0008716
Acrogeria is a congenital skin condition characterized by premature aging, particularly seen as unusually fragile and thin skin on the hands and feet....
MONDO:0007048
Acrokeratosis verruciformis is a rare genetic skin keratinization disorder that primarily affects the skin, with characteristic flesh‐colored warty pa...
MONDO:0007051
Acromegaloid facial appearance syndrome is a rare condition that affects many parts of the body. People with this condition often have a coarse, acrom...
MONDO:0019933
Acromegaly is an acquired endocrine disorder characterized by excessive production of growth hormone, leading to progressive somatic disfigurement tha...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.