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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"
Antisynthetase syndrome
AS syndrome · Anti-Jo1 syndrome
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Char-Douglas-Dungan syndrome
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Stoll-Kieny-Dott syndrome