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"

36 matching diseasesClear search ×

15q11q13 microduplication syndrome

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

11p15.4 microduplication syndrome

Dup(11)p(15.4) · Trisomy 11p15.4

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

14q32 duplication syndrome

Dup(14)q(32) · Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication

15q13.3 microdeletion syndrome

Del(15)(q13.3) · Monosomy 15q13.3

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

17p11.2 microduplication syndrome

Potocki-Lupski syndrome · Trisomy 17p11.2

17p13.3 microduplication syndrome

17p13.3 duplication syndrome · Dup(17)(p13.3)

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

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

3q29 microduplication syndrome

Trisomy 3q29

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

5q35 microduplication syndrome

Dup(5)(q35) · Trisomy 5q35

7p22.1 microduplication syndrome

Dup(7)(p22.1) · Trisomy 7p22.1

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

Distal duplication 10q syndrome

Distal trisomy 10q · Telomeric duplication 10q

Distal duplication 11q syndrome

Distal trisomy 11q · Telomeric duplication 11q

Distal duplication 13q syndrome

Distal trisomy 13q · Telomeric duplication 13q

Distal duplication 14q syndrome

Telomeric duplication 14q · Trisomy 14qter

Distal duplication 15q syndrome

Distal trisomy 15q · Telomeric duplication 15q

Distal duplication 16q syndrome

Distal trisomy 16q · Telomeric duplication 16q

Distal duplication 17q syndrome

Distal trisomy 17q · Telomeric duplication 17q

Distal duplication 18q syndrome

Distal trisomy 18q · Telomeric duplication 18q

Distal duplication 19q syndrome

Telomeric duplication 19q · Trisomy 19qter

Distal duplication 1p36 syndrome

Distal trisomy 1p36 · Telomeric duplication 1p36

Down syndrome

Trisomy 21

Mosaic trisomy 15 syndrome

Trisomy 15 mosaicism · Mosaic trisomy chromosome 15

Trisomy 13 syndrome

Patau syndrome