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 ×

Andersen-Tawil syndrome

Andersen syndrome · LQT7

ORPHA:37553

Timothy syndrome

LQT8 · Long QT syndrome type 8

ORPHA:65283