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"

106 matching diseasesClear search ×

Partial duplication/triplication of chromosome 9 syndrome

Partial trisomy/tetrasomy of chromosome 9

ORPHA:262643

Partial duplication/triplication of the short arm of chromosome 12 syndrome

Partial duplication/triplication of chromosome 12p · Partial trisomy/tetrasomy of the short arm of chromosome 12

ORPHA:262658

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

Partial duplication/triplication of the short arm of chromosome 5 syndrome

Partial duplication/triplication of chromosome 5p · Partial trisomy/tetrasomy of the short arm of chromosome 5

ORPHA:262725

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

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

ORPHA:3380

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 9p syndrome

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

ORPHA:236