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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 4,961-4,980 of 10,888 diseases
MONDO:0700339
DNM1-encephalopathy and neurodevelopmental disorder is a rare condition caused by a variation in the DNM1 gene. This condition falls under a group of...
MONDO:0014637
DOCK2 deficiency, also known as immunodeficiency type 40 or IMD40, is a rare genetic condition linked to changes in the DOCK2 gene. While detailed des...
MONDO:0011381
Dominant beta-thalassemia is a hereditary blood disorder that primarily affects the body’s ability to produce normal hemoglobin, resulting in moderate...
MONDO:0008381
Dominant pericentral pigmentary retinopathy is a type of retinitis pigmentosa that affects the retina, leading to characteristic pigmentary changes an...
MONDO:0009104
Donnai-Barrow syndrome is a rare condition that affects many parts of the body. It is known for causing a number of birth defects, including changes i...
MONDO:0009517
Donohue syndrome, also known as leprechaunism, is a rare, congenital condition marked by extreme insulin resistance. This condition is characterized b...
MONDO:0035534
This condition is a rare form of primordial dwarfism. It is characterized by congenital microcephaly, which means that the head size is smaller than n...
MONDO:0009079
DOORS syndrome is a condition that affects several parts of the body. People with this condition often experience sensorineural hearing loss, abnormal...
MONDO:0005598
Dopaminergic neuroblastoma is a type of cancer that originates in nerve tissue and is characterized by increased dopamine excretion. This condition is...
MONDO:0016812
Dopa-responsive dystonia is a neurometabolic disorder characterized by movement difficulties, particularly dystonia with a marked fluctuation in sympt...
MONDO:0012994
Dopa-responsive dystonia due to sepiapterin reductase deficiency is a very rare neurometabolic disorder that primarily affects motor control and cogni...
MONDO:0010155
Dorfman-Chanarin disease is a rare inherited condition that is known by many names, including Chanarin-Dorfman Syndrome, neutral lipid storage disease...
MONDO:0958349
Dorsal spinal cord lipoma is a rare lipomatous malformation that involves an abnormal fat deposit attached to the dorsal aspect of the spinal cord, al...
MONDO:0019819
Double-orifice mitral valve is a congenital heart condition characterized by an abnormal structure of the mitral valve, in which the valve presents wi...
MONDO:0018090
Double outlet left ventricle (DOLV) is an extremely rare congenital heart malformation in which both the aorta and pulmonary artery predominantly aris...
MONDO:0018499
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy is a complex congenital heart condition characterize...
MONDO:0020388
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect is a congenital heart anomaly that affects the structure of th...
MONDO:0018498
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect is a congenital heart malformation in which both great arte...
MONDO:0020386
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis is a congenital heart condition in...
MONDO:0020387
Double outlet right ventricle with subpulmonary ventricular septal defect is a congenital heart defect that affects the structure and function of the...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.