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"

128 matching diseasesClear search ×

Partial duplication of chromosome 7 syndrome

Partial trisomy of chromosome 7

ORPHA:262633

Partial duplication of chromosome 8 syndrome

Partial trisomy of chromosome 8

ORPHA:262638

Partial duplication of chromosome X syndrome

Partial trisomy of chromosome X

ORPHA:263768

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 13 syndrome

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

ORPHA:262932

Partial duplication of the long arm of chromosome 17 syndrome

Partial duplication of chromosome 17q · Partial trisomy of chromosome 17q

ORPHA:262968

Partial duplication of the long arm of chromosome 3 syndrome

Partial duplication of chromosome 3q · Partial trisomy of chromosome 3q

ORPHA:262851

Partial duplication of the short arm of chromosome 1 syndrome

Partial duplication of chromosome 1p · Partial trisomy of chromosome 1p

ORPHA:264431

Partial duplication of the short arm of chromosome 17 syndrome

Partial duplication of chromosome 17p · Partial trisomy of chromosome 17p

ORPHA:262803

Partial duplication of the short arm of chromosome 3 syndrome

Partial duplication of chromosome 3p · Partial trisomy of chromosome 3p

ORPHA:262707

Partial duplication/triplication of chromosome 18 syndrome

Partial trisomy/tetrasomy of chromosome 18

ORPHA:262682

Partial duplication/triplication of chromosome 5 syndrome

Partial trisomy/tetrasomy of chromosome 5

ORPHA:262211

Partial duplication/triplication of chromosome 9 syndrome

Partial trisomy/tetrasomy of chromosome 9

ORPHA:262643

PMP22-RAI1 contiguous gene duplication syndrome

Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome

ORPHA:477817

Proximal 16p11.2 microduplication syndrome

Proximal dup(16)(p11.2) · Proximal trisomy 16p11.2

ORPHA:370079

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

ORPHA:1762

Silver-Russell syndrome due to 11p15 microduplication

ORPHA:231144

Silver-Russell syndrome due to 7p11.2p13 microduplication

Silver-Russell syndrome due to 7p11.2-p13 microduplication · Silver-Russell syndrome due to dup(7)(p11.2p13)

ORPHA:231137

Smith-Magenis syndrome

17p11.2 microdeletion syndrome

ORPHA:819

Trisomy 12p syndrome

Duplication 12p

ORPHA:1699

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

ORPHA:3380

Trisomy 18p syndrome

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

ORPHA:1715

Trisomy 1q syndrome

Duplication 1q

ORPHA:261344

Trisomy 4p syndrome

Trisomy of the short arm of chromosome 4 · Duplication 4p

ORPHA:1738

Trisomy 5p syndrome

Duplication 5p · Duplication of the short arm of chromosome 5

ORPHA:1742

Trisomy 8p syndrome

Duplication 8p

ORPHA:264450

Trisomy 8q syndrome

Duplication 8q

ORPHA:1752

Trisomy 9p syndrome

Duplication 9p · Duplication of the short arm of chromosome 9

ORPHA:236

Xp22.13p22.2 duplication syndrome

Dup(X)(p22) · Dup(X)(p22.13p22.2)

ORPHA:284180

Xq12-q13.3 duplication syndrome

Dup(X)(q12-q13.3) · Kaya-Prontera syndrome

ORPHA:314389

Xq25 microduplication syndrome

Dup(X)(q25) · Xq25 microtriplication

ORPHA:521258

Xq27.3q28 duplication syndrome

Dup(X)(q27.3q28) · Trisomy Xq27.3-q28

ORPHA:261483