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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"
Calpain-3-related limb-girdle muscular dystrophy R1
LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency
Immunoglobulin A nephropathy
Berger disease · IgA nephropathy
Primary qualitative or quantitative defects of alpha-dystroglycan
Primary alpha-dystroglycanopathy · Primary dystroglycanopathy