Trusted information across 10,888 rare diseases — plain language, always cited, free for everyone.
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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 8,081-8,100 of 10,888 diseases
MONDO:0016527
MONDO:0020693
Glycogen storage disease due to liver phosphorylase kinase deficiency is a benign condition that primarily affects the liver and growth in children. I...
MONDO:0012693
MONDO:0013046
MONDO:0010392
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency is a very rare metabolic disorder that affects multiple organ systems, primarily...
MONDO:0009865
Glycogen storage disease due to phosphoglycerate mutase deficiency is a very rare inherited metabolic disorder that affects both muscle function and r...
MONDO:0023258
MONDO:0009414
MONDO:0045010
Glycoprotein metabolism disease is a condition that arises from a disruption in the metabolic process of glycoproteins. It is linked to pathogenic cha...
MONDO:0009296
Glycoprotein storage disease is an inherited metabolic condition characterized by an abnormal accumulation of glycoproteins in various tissues. The pr...
MONDO:0017731
Glycoproteinosis is a condition characterized by abnormalities in the processing of glycoproteins that may affect multiple organ systems. The underlyi...
MONDO:0060627
MONDO:0040500
MONDO:0060724
MONDO:0029140
MONDO:0008151
Gnathodiaphyseal dysplasia (GDD) is a skeletal disorder primarily affecting the bones, characterized by bone fragility, abnormal jaw lesions, and bowi...
MONDO:0014953
MONDO:0018017
Goblet cell carcinoma is an aggressive tumor of the appendix with an endocrine component. It typically presents in individuals in their 50s, affecting...
MONDO:0007681
MONDO:0001967
Gonadal dysgenesis is a congenital condition characterized by extremely hypoplastic gonads that result in insufficient development of secondary sex ch...
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