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 ×

1p31p32 microdeletion syndrome

Del(1)(p31p32) · Monosomy 1p31p32

ORPHA:401986

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

ORPHA:313884

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

ORPHA:293948

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

ORPHA:456298

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

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

ORPHA:251071