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"

19 matching diseasesClear search ×

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

1p31p32 microdeletion syndrome

Del(1)(p31p32) · Monosomy 1p31p32

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

1q44 microdeletion syndrome

Del(1)(q44) · Monosomy 1q44

2p15p16.1 microdeletion syndrome

Del(2)(p15p16.1) · Monosomy 2p15p16.1

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

6p22 microdeletion syndrome

Del(6)(p22) · Monosomy 6p22

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Xp21 deletion syndrome

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

Xp22.3 microdeletion syndrome

Del(X)(p23)