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"

54 matching diseasesClear search ×

Down syndrome

Trisomy 21

ORPHA:870

Mosaic trisomy 1 syndrome

Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism

ORPHA:1692

PMP22-RAI1 contiguous gene duplication syndrome

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

ORPHA:477817

Trisomy 13 syndrome

Patau syndrome

ORPHA:3378

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

ORPHA:3380

Trisomy 1q syndrome

Duplication 1q

ORPHA:261344