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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 4,681-4,700 of 10,888 diseases
MONDO:0012529
Diamond-Blackfan anemia 3 is a rare inherited blood disorder in which a mutation in the RPS24 gene plays a key role. This condition is a subtype of Di...
MONDO:0012924
Diamond-Blackfan anemia 4 is a rare form of Diamond-Blackfan anemia that is caused by a mutation in the RPS17 gene. This condition is part of a group...
MONDO:0012925
Diamond-Blackfan anemia 5 is a rare blood disorder caused by a mutation in the RPL35A gene. It is a type of Diamond-Blackfan anemia where the mutation...
MONDO:0012937
Diamond-Blackfan anemia 6 is a rare type of Diamond-Blackfan anemia. In this condition, people have a mutation in the RPL5 gene which affects the prod...
MONDO:0012938
Diamond-Blackfan anemia 7 is a rare type of Diamond-Blackfan anemia that occurs due to a mutation in the RPL11 gene. This condition is one of several...
MONDO:0012939
Diamond-Blackfan anemia 8 is a rare genetic disorder that primarily affects the bone marrow, resulting in lower production of red blood cells. This co...
MONDO:0013216
Diamond-Blackfan anemia 9 is a rare form of Diamond-Blackfan anemia that occurs due to a mutation in the RPS10 gene. This condition is part of a group...
MONDO:0011524
Dianzani autoimmune lymphoproliferative disease is a very rare condition characterized by autoimmune activity along with lymphadenopathy and splenomeg...
MONDO:0044635
Information about the overview is currently limited for this condition. There is not enough available information to provide a detailed explanation of...
MONDO:0011946
Diaphanospondylodysostosis is a rare skeletal condition that primarily affects the development of the spine and associated structures. It is character...
MONDO:0004108
Diaphragma sellae meningioma is a type of tumor that arises from the meninges in the region of the diaphragma sellae, an area located near the pituita...
MONDO:0011007
Diaphragmatic defect-limb deficiency-skull defect syndrome is a congenital condition marked by severe malformations affecting the diaphragm, lungs, li...
MONDO:0006726
Diaphragmatic eventration is a condition characterized by an abnormal elevation of the hemidiaphragm. It can present as a congenital anomaly or may be...
MONDO:0007719
Diaphragmatic hernia 1 is a congenital condition in which the diaphragm does not form properly, potentially allowing abdominal organs to enter the che...
MONDO:0009103
Diaphragmatic hernia 2 is a congenital condition characterized by an abnormal formation of the diaphragm, which can allow abdominal organs to move int...
MONDO:0012431
Diaphragmatic hernia 3 is a congenital condition in which a structural defect of the diaphragm is linked to a mutation in the ZFPM2 gene. This disorde...
MONDO:0859571
Diaphragmatic hernia 4, with cardiovascular defects, is an inherited condition that primarily affects the development of the diaphragm and the cardiov...
MONDO:0035105
Diaphragmatic hernia-short bowel-asplenia syndrome is a rare genetic condition characterized by multiple congenital anomalies, including a diaphragmat...
MONDO:0100293
Diaphragmatic malformation is a developmental disorder affecting the diaphragm, the muscle that separates the chest from the abdominal cavity. This co...
MONDO:0005728
Diaphragm disorder is a condition that involves abnormal function of the diaphragm, the muscle that plays a crucial role in breathing and separating t...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.