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 ×

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 18 syndrome

Partial duplication of chromosome 18q · Partial trisomy of the long arm of chromosome 18

ORPHA:262977

Partial duplication of the long arm of chromosome 19 syndrome

Partial duplication of chromosome 19q · Partial trisomy of chromosome 19q

ORPHA:262986

Partial duplication of the long arm of chromosome 2 syndrome

Partial duplication of chromosome 2q · Partial trisomy of chromosome 2q

ORPHA:262842

Partial duplication of the long arm of chromosome 20 syndrome

Partial duplication of chromosome 20q · Partial trisomy of the long arm of chromosome 20

ORPHA:262995

Partial duplication of the long arm of chromosome 22 syndrome

Partial duplication of chromosome 22q · Partial trisomy of chromosome 22q

ORPHA:263004

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 long arm of chromosome 4 syndrome

Partial duplication of chromosome 4q · Partial trisomy of chromosome 4q

ORPHA:262860

Partial duplication of the long arm of chromosome 5 syndrome

Partial duplication of chromosome 5q · Partial trisomy of the long arm of chromosome 5

ORPHA:262869

Partial duplication of the long arm of chromosome 6 syndrome

Partial duplication of chromosome 6q · Partial trisomy of chromosome 6q

ORPHA:262878

Partial duplication of the long arm of chromosome 7 syndrome

Partial duplication of chromosome 7q · Partial trisomy of chromosome 7q

ORPHA:262887

Partial duplication of the long arm of chromosome 8 syndrome

Partial duplication of chromosome 8q · Partial trisomy of chromosome 8q

ORPHA:262896

Partial duplication of the long arm of chromosome 9 syndrome

Partial duplication of chromosome 9q · Partial trisomy of the long arm of chromosome 9

ORPHA:262905

Partial duplication of the long arm of chromosome X syndrome

Partial duplication of chromosome Xq · Partial trisomy of chromosome Xq

ORPHA:263783

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 10 syndrome

Partial duplication of chromosome 10p · Partial trisomy of chromosome 10p

ORPHA:262776

Partial duplication of the short arm of chromosome 11 syndrome

Partial duplication of chromosome 11p · Partial trisomy of chromosome 11p

ORPHA:262785

Partial duplication of the short arm of chromosome 16 syndrome

Partial trisomy of chromosome 16p · Partial trisomy of the short arm of chromosome 16

ORPHA:262794

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 19 syndrome

Partial duplication of chromosome 19p · Partial trisomy of chromosome 19p

ORPHA:447985

Partial duplication of the short arm of chromosome 2 syndrome

Partial duplication of chromosome 2p · Partial trisomy of chromosome 2p

ORPHA:262698

Partial duplication of the short arm of chromosome 3 syndrome

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

ORPHA:262707

Partial duplication of the short arm of chromosome 4 syndrome

Partial duplication of chromosome 4p · Partial trisomy of chromosome 4p

ORPHA:262716

Partial duplication of the short arm of chromosome 6 syndrome

Partial duplication of chromosome 6p · Partial trisomy of chromosome 6p

ORPHA:262740

Partial duplication of the short arm of chromosome 7 syndrome

Partial duplication of chromosome 7p · Partial trisomy of chromosome 7p

ORPHA:262749

Partial duplication of the short arm of chromosome 8 syndrome

Partial duplication of chromosome 8p · Partial trisomy of chromosome 8p

ORPHA:262758

Partial duplication of the short arm of chromosome X syndrome

Partial duplication of chromosome Xp · Partial trisomy of chromosome Xp

ORPHA:263775

Partial duplication/triplication of the short arm of chromosome 9 syndrome

Partial duplication of chromosome 9p · Partial duplication of the short arm of chromosome 9

ORPHA:262767

Proximal Xq28 duplication syndrome

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

ORPHA:1762

Recombinant 8 syndrome

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

ORPHA:96167

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

Unilateral ocular duplication

Unilateral diplophthalmia · Unilateral diplophthalmos

ORPHA:3374

Xp22.13p22.2 duplication syndrome

Dup(X)(p22) · Dup(X)(p22.13p22.2)

ORPHA:284180