Trusted information across 10,888 rare diseases — plain language, always cited, free for everyone.
Can't find your disease? Try searching by gene, symptom, or OMIM ID.
Every report passes a 3-tier quality pipeline with gene validation, fact-checking, and safety checks.
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and more. Every claim is cited.
Data syncs range from 3x daily (news) to weekly (trials, FDA). Reports regenerate when data changes.
Showing 9,101-9,120 of 10,888 diseases
MONDO:0014597
MONDO:0010504
MONDO:0014981
Immunodeficiency 49 is a primary immunodeficiency disorder caused by mutations in the BCL11B gene that affects both the immune system and neurodevelop...
MONDO:0013500
MONDO:0054696
MONDO:0010296
Immunodeficiency 61 is a complex immune disorder that primarily affects the body’s ability to fight bacterial infections. The condition is linked to g...
MONDO:0032803
MONDO:0011888
Immunodeficiency 67 is an inherited condition that leads to an increased susceptibility to serious bacterial infections, particularly those caused by...
MONDO:0033554
MONDO:0033555
MONDO:0030858
MONDO:0030898
MONDO:0030981
Immunodeficiency 79 is an inherited disorder that affects the immune system, leading to an abnormal reduction in CD4+ T cell proportions and a predisp...
MONDO:0030681
Immunodeficiency 94 with autoinflammation and dysmorphic facies is a complex condition affecting multiple organ systems, characterized by both immune...
MONDO:0024777
MONDO:0011664
MONDO:0013423
Immunodeficiency due to MASP-2 deficiency is a very rare genetic condition that affects the immune system through an anomaly in the complement cascade...
MONDO:0015699
Immunodeficiency due to a classical component pathway complement deficiency is a condition that affects the immune system by impairing one of its key...
MONDO:0015700
Immunodeficiency due to a late component of complement deficiency is a condition that arises from a deficiency in one of the proteins forming the memb...
MONDO:0013467
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