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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
TRIM32-related limb-girdle muscular dystrophy R8
Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H
Early-onset myopathy with fatal cardiomyopathy
EOMFC · Salih myopathy
Myofibrillar myopathy
MFM
Tubular aggregate myopathy
X-linked centronuclear myopathy
XLCNM · XLMTM