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"

129 matching diseasesClear search ×

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 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

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

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

ORPHA:1437

Ring chromosome 10 syndrome

Ring chromosome 10 · Ring 10

ORPHA:1438

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

ORPHA:96175

Ring chromosome 12 syndrome

Ring chromosome 12 · Ring 12

ORPHA:1439

Ring chromosome 13 syndrome

Ring chromosome 13 · Ring 13

ORPHA:96176

Ring chromosome 14 syndrome

Ring chromosome 14 · Ring 14

ORPHA:1440

Ring chromosome 15 syndrome

Ring chromosome 15 · Ring 15

ORPHA:96177

Ring chromosome 16 syndrome

Ring chromosome 16 · Ring 16

ORPHA:96178

Ring chromosome 17 syndrome

Ring chromosome 17 · Ring 17

ORPHA:1441

Ring chromosome 18 syndrome

Ring chromosome 18 · Ring 18

ORPHA:1442

Ring chromosome 19 syndrome

Ring chromosome 19 · Ring 19

ORPHA:1443

Trisomy 13 syndrome

Patau syndrome

ORPHA:3378

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 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