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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 6,461-6,480 of 10,888 diseases
MONDO:0013587
MONDO:0013047
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:0002413
Glycogen storage disease I (GSD I), sometimes called von Gierke disease, is an inherited metabolic disorder that interferes with the body’s ability to...
MONDO:0009288
Glycogen storage disease Ib is a metabolic disorder classified among glycogenoses and is caused by defects in the glucose-6-phosphate transport proces...
MONDO:0800302
Glycogen storage disease Id is a metabolic condition that affects how the body processes and stores glycogen, although many details about its presenta...
MONDO:0009290
Glycogen storage disease II, also known as Pompe disease or acid maltase deficiency, is a metabolic myopathy characterized by the buildup of glycogen...
MONDO:0009291
Glycogen storage disease III is a metabolic condition characterized by a deficiency of the glycogen debranching enzyme, resulting in muscle weakness a...
MONDO:0700291
Glycogen storage disease IX is a group of inborn errors of glycogen metabolism that stems from deficiencies in phosphorylase kinase activity affecting...
MONDO:0010598
Glycogen storage disease IXa1 is a disorder affecting the liver and blood cells resulting from a mutation in the PHKA2 gene, which leads to deficient...
MONDO:0100439
Glycogen storage disease IXa2 is a form of liver glycogenosis that affects the body’s ability to properly process and store glycogen in the liver. Alt...
MONDO:0009868
Glycogen storage disease IXb is a metabolic disorder affecting the liver and muscle tissues due to a deficiency in the phosphorylase kinase subunit b....
MONDO:0013091
Glycogen storage disease IXc is a liver phosphorylase kinase deficiency caused by pathogenic variants in the PHKG2 gene. It primarily affects children...
MONDO:0010362
Glycogen storage disease IXd is a benign condition affecting muscle metabolism and is characterized by a deficiency in phosphorylase kinase activity....
MONDO:0023258
Glycogen storage disease type 1 due to SLC37A4 mutation is a metabolic disorder classified under glycogen storage diseases, with recognized subtypes s...
MONDO:0009293
Glycogen storage disease V, also known as McArdle disease, is a metabolic myopathy that primarily affects skeletal muscles and leads to significant ex...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.