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"

89 matching diseasesClear search ×

Trisomy 20p syndrome

Dup(20p) · Duplication of 20p

ORPHA:261318

14q32 duplication syndrome

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

ORPHA:488280

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

ORPHA:96078

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

ORPHA:1727

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

ORPHA:96072

Autosomal trisomy syndrome

Autosomal duplication

ORPHA:98130

Caudal duplication

Dipygus · Split notochord syndrome

ORPHA:1756

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 8q syndrome

Distal trisomy 8q · Telomeric duplication 8q

ORPHA:96100

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 colonic duplication

Isolated duplication of the colon

ORPHA:662392

Isolated digestive duplication cyst of the tongue

Enteric duplication cyst of the tongue · Foregut duplication cyst of the tongue

ORPHA:141071

Isolated duodenal duplication

Isolated duplication of the duodenum

ORPHA:662473

OBSOLETE: Digestive duplication

ORPHA:238

OBSOLETE: Duplication 4q

OBSOLETE: Trisomy 4q

ORPHA:1739

Partial duplication of chromosome 2 syndrome

Partial trisomy of chromosome 2

ORPHA:262196

Partial duplication of chromosome 20 syndrome

Partial trisomy of chromosome 20

ORPHA:262692

Partial duplication of the long arm of chromosome 1 syndrome

Partial duplication of chromosome 1q · Partial trisomy of chromosome 1q

ORPHA:262833

Partial duplication of the long arm of chromosome 10 syndrome

Partial duplication of chromosome 10q · Partial trisomy of chromosome 10q

ORPHA:262914

Partial duplication of the long arm of chromosome 11 syndrome

Partial duplication of chromosome 11q · Partial trisomy of chromosome 11q

ORPHA:262923

Partial duplication of the long arm of chromosome 13 syndrome

Partial duplication of chromosome 13q · Partial trisomy of chromosome 13q

ORPHA:262932

Partial duplication of the long arm of chromosome 14 syndrome

Partial duplication of chromosome 14q · Partial trisomy of chromosome 14q

ORPHA:262941

Partial duplication of the long arm of chromosome 15 syndrome

Partial duplication of chromosome 15q · Partial trisomy of chromosome 15q

ORPHA:262950

Partial duplication of the long arm of chromosome 16 syndrome

Partial duplication of chromosome 16q · Partial trisomy of the long arm of chromosome 16

ORPHA:262959