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"

64 matching diseasesClear search ×

OBSOLETE: Duplication 4q

OBSOLETE: Trisomy 4q

ORPHA:1739

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/triplication of the short arm of chromosome 18 syndrome

Partial duplication/triplication of chromosome 18p · Partial trisomy/tetrasomy of the short arm of chromosome 18

ORPHA:262812

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 1q syndrome

Duplication 1q

ORPHA:261344

Trisomy 20p syndrome

Dup(20p) · Duplication of 20p

ORPHA:261318

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