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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"
Rothmund-Thomson syndrome
Poikiloderma of Rothmund-Thomson · RTS
Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1 · RTS1
Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2 · RTS2
Kindler epidermolysis bullosa
Kindler syndrome · Poikiloderma of Kindler