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 ×

1q41q42 microdeletion syndrome

Del(1)(q41q42) · Monosomy 1q41q42

ORPHA:250999

16q24.1 microdeletion syndrome

Del(16)(q24.1) · Monosomy 16q24.1

ORPHA:352629

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

ORPHA:1606

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

ORPHA:250989

1q44 microdeletion syndrome

Del(1)(q44) · Monosomy 1q44

ORPHA:238769

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

ORPHA:228402

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

ORPHA:251014

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

ORPHA:251028