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"

56 matching diseasesClear search ×

Distal duplication 8q syndrome

Distal trisomy 8q · Telomeric duplication 8q

ORPHA:96100

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

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

ORPHA:251076

Caudal duplication

Dipygus · Split notochord syndrome

ORPHA:1756

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

ORPHA:1627

Distal deletion 10p syndrome

Distal monosomy 10p · Monosomy 10pter

ORPHA:1580

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

ORPHA:96148

Distal deletion 12q syndrome

Distal monosomy 12q · Monosomy 12qter

ORPHA:96149

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion

ORPHA:1590

Distal deletion 14q syndrome

Distal monosomy 14q · Telomeric deletion 14q

ORPHA:96150

Distal deletion 17q syndrome

Distal monosomy 17q · Monosomy 17qter

ORPHA:1597

Distal deletion 19p syndrome

Telomeric deletion 19p · Distal monosomy 19p13.3

ORPHA:96129

Distal deletion 1q syndrome

Distal monosomy 1q · Monosomy 1qter

ORPHA:36367

Distal deletion 4q syndrome

Distal monosomy 4q · Monosomy 4qter

ORPHA:96145

Distal deletion 7p syndrome

Distal monosomy 7p · Monosomy 7pter

ORPHA:96126

Distal deletion 9p syndrome

Distal monosomy 9p · Monosomy 9pter

ORPHA:1642

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

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

ORPHA:1636

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

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

ORPHA:2308

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

ORPHA:531

Recombinant 8 syndrome

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

ORPHA:96167

Trisomy 12p syndrome

Duplication 12p

ORPHA:1699

Trisomy 18p syndrome

Duplication 18p · Duplication of the short arm of chromosome 18

ORPHA:1715

Trisomy 1q syndrome

Duplication 1q

ORPHA:261344