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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"
White sponge nevus
Hereditary mucosal leukokeratosis · White sponge nevus of Cannon
Autosomal dominant keratitis
Hereditary keratitis
Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
Hereditary leiomyomatosis and renal cell cancer
Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri
Hereditary palmoplantar keratoderma
Hereditary PPK · Hereditary keratosis palmoplantaris