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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"
Familial generalized lentiginosis
Familial lentigines profusa · Familial multiple lentigines syndrome without systemic involvement
Acute infantile liver failure-multisystemic involvement syndrome
Familial episodic pain syndrome with predominantly lower limb involvement
Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome