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 ×

Aurocephalosyndactyly

Auralcephalosyndactyly · Kurczynski-Casperson syndrome

ORPHA:1219

Pierson syndrome

Microcoria-congenital nephrosis syndrome

ORPHA:2670

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia

ORPHA:54028

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

ORPHA:2976