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"

51 matching diseasesClear search ×

PMP22-RAI1 contiguous gene duplication syndrome

Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome

ORPHA:477817

Proximal 16p11.2 microduplication syndrome

Proximal dup(16)(p11.2) · Proximal trisomy 16p11.2

ORPHA:370079

Trisomy 13 syndrome

Patau syndrome

ORPHA:3378