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 ×

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

15q11q13 microduplication syndrome

15q11q13 duplication syndrome · Dup(15)(q11q13)

17q11.2 microduplication syndrome

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

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

20q11.2 microduplication syndrome

Dup(20)(q11.2)

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

Distal 22q11.2 microdeletion syndrome

Distal del(22)(q11.2) · Distal monosomy 22q11.2

Distal 22q11.2 microduplication syndrome

Distal dup(22)(q11.2) · Distal trisomy 22q11.2

Distal 7q11.23 microduplication syndrome

Distal dup(7)(q11.23) · Distal trisomy 7q11.23

Microduplication Xp11.22p11.23 syndrome

Dup(X)(p11.22p11.23) · Trisomy Xp11.22p11.23

Trisomy 20p syndrome

Dup(20p) · Duplication of 20p