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"

50 matching diseasesClear search ×

3q29 microduplication syndrome

Trisomy 3q29

ORPHA:251038

10q22.3q23.3 microduplication syndrome

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

ORPHA:276422

11p15.4 microduplication syndrome

Dup(11)p(15.4) · Trisomy 11p15.4

ORPHA:300305

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

ORPHA:261229

14q32 duplication syndrome

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

ORPHA:488280

15q11q13 microduplication syndrome

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

ORPHA:238446

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

ORPHA:261243

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

ORPHA:96078

17p11.2 microduplication syndrome

Potocki-Lupski syndrome · Trisomy 17p11.2

ORPHA:1713

17p13.3 microduplication syndrome

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

ORPHA:217385

17q11.2 microduplication syndrome

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

ORPHA:139474

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

ORPHA:261272

17q21.31 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

ORPHA:217340

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

ORPHA:250994

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

ORPHA:1727

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

ORPHA:313947

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

ORPHA:96095

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

ORPHA:65286

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

ORPHA:96072

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

ORPHA:329802

5q35 microduplication syndrome

Dup(5)(q35) · Trisomy 5q35

ORPHA:228415

7p22.1 microduplication syndrome

Dup(7)(p22.1) · Trisomy 7p22.1

ORPHA:314034

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

ORPHA:96121

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

ORPHA:251076

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

ORPHA:228399

Distal duplication 10q syndrome

Distal trisomy 10q · Telomeric duplication 10q

ORPHA:96102

Distal duplication 11q syndrome

Distal trisomy 11q · Telomeric duplication 11q

ORPHA:96103

Distal duplication 13q syndrome

Distal trisomy 13q · Telomeric duplication 13q

ORPHA:96105

Distal duplication 14q syndrome

Telomeric duplication 14q · Trisomy 14qter

ORPHA:1705

Distal duplication 15q syndrome

Distal trisomy 15q · Telomeric duplication 15q

ORPHA:1707

Distal duplication 16q syndrome

Distal trisomy 16q · Telomeric duplication 16q

ORPHA:96106

Distal duplication 17q syndrome

Distal trisomy 17q · Telomeric duplication 17q

ORPHA:3379

Distal duplication 18q syndrome

Distal trisomy 18q · Telomeric duplication 18q

ORPHA:1716

Distal duplication 19q syndrome

Telomeric duplication 19q · Trisomy 19qter

ORPHA:1717

Distal duplication 1p36 syndrome

Distal trisomy 1p36 · Telomeric duplication 1p36

ORPHA:96069

Distal duplication 20q syndrome

Distal trisomy 20q · Telomeric duplication 20q

ORPHA:96107

Distal duplication 22q syndrome

Distal trisomy 22q · Telomeric duplication 22q

ORPHA:96109

Distal duplication 2p syndrome

Distal trisomy 2p · Telomeric duplication 2p

ORPHA:96070

Distal duplication 2q syndrome

Distal trisomy 2q · Telomeric duplication 2q

ORPHA:96094

Distal duplication 3p syndrome

Distal trisomy 3p · Telomeric duplication 3p

ORPHA:96071

Distal duplication 4q syndrome

Distal trisomy 4q · Telomeric duplication 4q

ORPHA:96096

Distal duplication 5q syndrome

Distal trisomy 5q · Telomeric duplication 5q

ORPHA:96097

Distal duplication 6p syndrome

Distal trisomy 6p · Telomeric duplication 6p

ORPHA:1745

Distal duplication 6q syndrome

Distal trisomy 6q · Telomeric duplication 6q

ORPHA:96098

Distal duplication 7p syndrome

Distal trisomy 7p · Telomeric duplication 7p

ORPHA:96074

Distal duplication 8q syndrome

Distal trisomy 8q · Telomeric duplication 8q

ORPHA:96100

Distal duplication 9q syndrome

Distal trisomy 9q · Telomeric duplication 9q

ORPHA:96101

Down syndrome

Trisomy 21

ORPHA:870