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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"
Hereditary myopathy with early respiratory failure
MFM-titinopathy · Hereditary inclusion body myopathy with early respiratory failure
GNE myopathy
DMRV · Distal myopathy with rimmed vacuoles
Hereditary inclusion body myopathy type 4
HIBM4
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
HIBM3 · Hereditary inclusion body myopathy type 3