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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 1,701-1,720 of 10,888 diseases
MONDO:0011028
Autosomal recessive limb-girdle muscular dystrophy type 2F is a condition that primarily affects the muscles around the shoulders and hips, leading to...
MONDO:0011170
Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a subtype of limb-girdle muscular dystrophy characterized by muscle weakness an...
MONDO:0009683
Autosomal recessive limb-girdle muscular dystrophy type 2H is a mild form of muscular dystrophy caused by changes in the TRIM32 gene that affect norma...
MONDO:0011787
Autosomal recessive limb-girdle muscular dystrophy type 2I is a subtype of muscular dystrophy characterized by slowly progressive weakness of the pelv...
MONDO:0012127
Autosomal recessive limb-girdle muscular dystrophy type 2J is a condition that primarily affects the skeletal muscles, particularly those in the limb-...
MONDO:0012248
Autosomal recessive limb-girdle muscular dystrophy type 2K is a genetic muscle disorder that primarily weakens the muscles around the hips and shoulde...
MONDO:0012652
Autosomal recessive limb-girdle muscular dystrophy type 2L is a condition affecting the muscles, particularly those around the hips and shoulders. It...
MONDO:0012699
Autosomal recessive limb-girdle muscular dystrophy type 2M is a neuromuscular disorder characterized by muscle weakness primarily affecting the limb-g...
MONDO:0013162
Autosomal recessive limb-girdle muscular dystrophy type 2N is a condition affecting the skeletal muscles, particularly those around the hips and shoul...
MONDO:0013161
Autosomal recessive limb-girdle muscular dystrophy type 2O is a condition affecting the skeletal muscles, particularly those of the shoulder and hip g...
MONDO:0013440
Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a neuromuscular condition that primarily weakens the muscles of the hips, thigh...
MONDO:0013390
Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is caused by variants in the PLEC gene, which plays a crucial role in muscle integ...
MONDO:0014977
Autosomal recessive limb-girdle muscular dystrophy type 2R1 is a very rare inherited condition that primarily affects the proximal muscles responsible...
MONDO:0014142
Autosomal recessive limb-girdle muscular dystrophy type 2T (often called LGMD2T) is a very rare neuromuscular disorder that primarily weakens the larg...
MONDO:0014474
Autosomal recessive limb-girdle muscular dystrophy type 2U is a very rare inherited muscle disorder that mainly weakens the large muscles of the hips...
MONDO:0014788
Autosomal recessive limb-girdle muscular dystrophy type 2W (LGMD2W) is characterized by childhood onset of severe, progressive proximal skeletal muscl...
MONDO:0014782
Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare condition characterized by a slowly progressive weakness and atrophy of the proxi...
MONDO:0014900
Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a very rare inherited muscle disorder that weakens the shoulder and hip (limb-g...
MONDO:0014144
Autosomal recessive limb-girdle muscular dystrophy type R18 is a very rare condition that primarily affects the muscles of the hips and shoulders, lea...
MONDO:0017900
autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency is an extremely rare condition. Because f...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.