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"

3 matching diseasesClear search ×

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome

ORPHA:3138

Circumscribed palmoplantar hypokeratosis

Circumscribed acral hypokeratosis

ORPHA:69744

OBSOLETE: Circumscribed lymphatic malformation

OBSOLETE: Circumscribed lymphangioma

ORPHA:217410