Rare Disease Library

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"

4 matching diseasesClear search ×

Familial generalized lentiginosis

Familial lentigines profusa · Familial multiple lentigines syndrome without systemic involvement

ORPHA:231040

Acute infantile liver failure-multisystemic involvement syndrome

ORPHA:370088

Familial episodic pain syndrome with predominantly lower limb involvement

ORPHA:391392

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

ORPHA:500