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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"
Timothy syndrome type 2
TS2 · LQT8 type 2
Autism spectrum disorder due to AUTS2 deficiency
ASD due to AUTS2 deficiency · AUTS2 syndrome
Virus-associated trichodysplasia spinulosa
Cyclosporine-induced folliculodystrophy · Pilomatrix dysplasia