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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"
Congenital muscular dystrophy type 1C
CMD1C · MDC1C
Congenital muscular dystrophy
CMD · MDC
Congenital muscular dystrophy type 1B
CMD1B · MDC1B
Congenital muscular dystrophy with hyperlaxity
CMDH
Laminin subunit alpha 2-related congenital muscular dystrophy
CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency