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 ×

Pyramidal molars-abnormal upper lip syndrome

Ackerman fused molar roots syndrome

ORPHA:2561

Asherman syndrome

ORPHA:137686

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

ORPHA:79099

Moore-Federman syndrome

Dwarfism-stiff joint-ocular abnormalities syndrome

ORPHA:2569