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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"
OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy
OBSOLETE: MYH7-related late-onset SPMD · OBSOLETE: MYH7-related late-onset scapuloperoneal syndrome
OBSOLETE: ATR-X-related syndrome
OBSOLETE: GMPPB-related congenital muscular dystrophy
OBSOLETE: GMPPB-related CMD
OBSOLETE: HIV-related lung cancer
OBSOLETE: LIMS2-related myopathy