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 ×

Pulmonary Langerhans cell histiocytosis

Single-system pulmonary Langerhans cell histiocytosis · Single-system pulmonary histiocytosis X

ORPHA:687733

Nodular cutaneous amyloidosis

PLCNA · Primary localized cutaneous nodular amyloidosis

ORPHA:137810

Primary cutaneous amyloidosis

PLCA · Primary localized cutaneous amyloidosis

ORPHA:137807