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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"
Epidermolysis bullosa simplex with circinate migratory erythema
EBS with circinate migratory erythema · EBS-migr
Epidermolysis bullosa simplex
EBS
Epidermolysis bullosa simplex with mottled pigmentation
EBS-MP · EBS with mottled pigmentation
Epidermolysis bullosa simplex with muscular dystrophy
EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex