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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 generalized lipodystrophy
BSCL · Berardinelli-Seip syndrome
Congenital generalized lipodystrophy type 4
GCL4 · Berardinelli-Seip syndrome type 4, BSCL type 4
Congenital muscular dystrophy
CMD · MDC
Congenital stromal corneal dystrophy
CSCD · Congenital hereditary stromal dystrophy