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"

5 matching diseasesClear search ×

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

ORPHA:699

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

ORPHA:653728

Marshall syndrome

ORPHA:560

Pierson syndrome

Microcoria-congenital nephrosis syndrome

ORPHA:2670

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

ORPHA:2976