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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"
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Tonoki-Ohura-Niikawa syndrome · Cryptomicrotia-brachydactyly syndrome
Double uterus-hemivagina-renal agenesis syndrome
Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome
Kabuki syndrome
Kabuki make-up syndrome · Niikawa-Kuroki syndrome