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"

15 matching diseasesClear search ×

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

10q22.3q23.3 microduplication syndrome

Dup(10)(q22.3q23.3) · Trisomy 10q22.3q23.3

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

17q11.2 microduplication syndrome

Dup(17)(q11.2) · Grisart-Destrée syndrome

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

17q21.31 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

17q23.1q23.2 microdeletion syndrome

Del(17)(q23.1q23.2) · Monosomy 17q23.1q23.2

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

20q11.2 microduplication syndrome

Dup(20)(q11.2)

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

Xq25 microduplication syndrome

Dup(X)(q25) · Xq25 microtriplication