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 ×

Laurence-Moon syndrome

LMS

ORPHA:2377

Limb-mammary syndrome

LMS

ORPHA:69085

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

GLOW syndrome

ORPHA:404476

Isolated rare lymphatic malformation

LM · Lymphangioma

ORPHA:2415