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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"
Tuberous sclerosis complex
Bourneville disease · Bourneville syndrome
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Bourneville disease · PKDTS
Huriez syndrome
Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome
Sclerosteosis
Cortical hyperostosis-syndactyly syndrome
Systemic sclerosis
Progressive systemic sclerosis · Scleroderma