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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"
BAG3-related myofibrillar myopathy
MFM6 · Myofibrillar myopathy type 6
HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
MFM13 · Myofibrillar myopathy-rimmed vacuoles type 13
Muscle filaminopathy
FLNC-associated myofibrillar myopathy · Filamin C-related filaminopathy
Myofibrillar myopathy
MFM