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 ×

Juvenile hyaline fibromatosis

Murray-Puretic-Drescher syndrome · Puretic syndrome

ORPHA:2028

Ascher syndrome

Blepharochalasis-double lip syndrome

ORPHA:1253

Drug reaction with eosinophilia and systemic symptoms

DRESS syndrome · Drug rash with eosinophilia and systemic symptoms

ORPHA:139402

Thickened earlobes-conductive deafness syndrome

Thickened earlobes-conductive hearing loss syndrome · Escher-Hirt syndrome

ORPHA:2405