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 ×

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

ORPHA:2496

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

ORPHA:93258

Pfeiffer syndrome type 2

ORPHA:93259

Pfeiffer syndrome type 3

ORPHA:93260