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"

63 matching diseasesClear search ×

Trisomy 8q syndrome

Duplication 8q

ORPHA:1752

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

ORPHA:96167

Distal duplication 8q syndrome

Distal trisomy 8q · Telomeric duplication 8q

ORPHA:96100

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

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

ORPHA:96078

17p13.3 microduplication syndrome

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

ORPHA:217385

1p36.33 duplication syndrome

ORPHA:656279

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

ORPHA:1727

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

ORPHA:96072

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

ORPHA:251076

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

ORPHA:228399

Autosomal trisomy syndrome

Autosomal duplication

ORPHA:98130

Caudal duplication

Dipygus · Split notochord syndrome

ORPHA:1756

Charcot-Marie-Tooth disease type 1A

CMT1A · Microduplication 17p12

ORPHA:101081

Diprosopus

Diprosopia · Craniofacial duplication

ORPHA:1681

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 9q syndrome

Distal trisomy 9q · Telomeric duplication 9q

ORPHA:96101

Duplication of the esophagus

ORPHA:91357

Duplication of the pituitary gland

DPG-plus syndrome · Duplication of the pituitary gland-plus syndrome

ORPHA:314621

Duplication of urethra

ORPHA:237

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

ORPHA:3306

Isolated anal canal duplication

ACD

ORPHA:684752

Isolated colonic duplication

Isolated duplication of the colon

ORPHA:662392

Isolated duodenal duplication

Isolated duplication of the duodenum

ORPHA:662473

Isolated gastric duplication

Isolated stomach duplication

ORPHA:662376

Isolated pyloric duplication

Isolated duplication cyst of the pyloric canal · Isolated duplication cyst of the pylorus

ORPHA:662405

Isolated rectal duplication

ORPHA:171220

OBSOLETE: Digestive duplication

ORPHA:238