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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 10,441-10,460 of 10,888 diseases
MONDO:0013061
Myofibrillar myopathy 6, also known as BAG3-related myofibrillar myopathy, is a form of muscular dystrophy characterized by progressive limb and axial...
MONDO:0014922
MONDO:0014993
Myofibrillar myopathy 8 is a neuromuscular condition caused by mutations in the PYROXD1 gene, which affects the structure and function of muscle fiber...
MONDO:0009227
MONDO:0014122
MONDO:0009992
Myoglobinuria, acute recurrent, autosomal recessive is a muscle disorder that predominantly affects skeletal muscle function. It is characterized by e...
MONDO:0010791
MONDO:0015191
Myopathic intestinal pseudoobstruction is a disorder affecting the functioning of the intestines, where the muscles of the gut do not work as expected...
MONDO:0005336
Myopathy is a muscle disorder in which the muscle fibers do not function properly, leading to muscular weakness. The condition is associated with chan...
MONDO:0012286
MONDO:0100530
Myopathy caused by variation in CRPPA is a muscle disorder that primarily affects the strength and function of skeletal muscles. The condition arises...
MONDO:0700066
Myopathy caused by variation in FKRP is a genetic muscle disorder that results from changes in the FKRP gene. This condition affects the structure and...
MONDO:0700067
Myopathy caused by variation in FKTN is a muscle disorder resulting from changes in the FKTN gene. This condition affects skeletal muscle and can lead...
MONDO:0700084
MONDO:0700068
Myopathy caused by variation in POMGNT1 is a disorder affecting the muscles, arising from changes in the POMGNT1 gene. This condition is defined by it...
MONDO:0700069
MONDO:0700070
Myopathy caused by variation in POMT1 is a muscle disorder resulting from changes in the POMT1 gene. This condition affects muscle function, leading t...
MONDO:0700071
Myopathy caused by variation in POMT2 is a condition that primarily affects the muscles, leading to issues with strength and motor function. It is cau...
MONDO:0009709
Myopathy, centronuclear, 2 is a neuromuscular condition characterized by muscle weakness and distinct changes in muscle fiber structure. It is caused...
MONDO:0014418
Myopathy, centronuclear, 5 is an autosomal recessive muscle disorder that primarily affects the musculature and skeletal system, leading to clinical f...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.