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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"
Mesoaxial synostotic syndactyly with phalangeal reduction
MSSD · Syndactyly type 9
Multiple self-healing squamous epithelioma
Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type · Ferguson-Smith disease
Multiple sulfatase deficiency
MSD · Austin disease