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"

8 matching diseasesClear search ×

6p22 microdeletion syndrome

Del(6)(p22) · Monosomy 6p22

ORPHA:251046

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

ORPHA:293948

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

ORPHA:163693

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

ORPHA:171829

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

ORPHA:251071

Monosomy 22 syndrome

Del(22) · Deletion 22

ORPHA:96123

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome

ORPHA:261476

Xp22.3 microdeletion syndrome

Del(X)(p23)

ORPHA:1643