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"

2 matching diseasesClear search ×

Multinodular goiter-cystic kidney-polydactyly syndrome

Daneman-Davy-Mancer syndrome · Thyroid-renal-digital anomalies

ORPHA:2091

Renal-genital-middle ear anomalies

ORPHA:1092