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"

116 matching diseasesClear search ×

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

Prader-Willi syndrome due to paternal 15q11q13 deletion

ORPHA:98793

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

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