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"

38 matching diseasesClear search ×

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

ORPHA:96175

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

ORPHA:2308

Mosaic trisomy 1 syndrome

Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism

ORPHA:1692

Mosaic trisomy 10 syndrome

Trisomy 10 mosaicism · Mosaic trisomy chromosome 10

ORPHA:96063

Mosaic trisomy 12 syndrome

Mosaic trisomy chromosome 12 · Trisomy 12 mosaicism

ORPHA:1698

Mosaic trisomy 14 syndrome

Mosaic trisomy chromosome 14 · Trisomy 14 mosaicism

ORPHA:1703

Mosaic trisomy 15 syndrome

Trisomy 15 mosaicism · Mosaic trisomy chromosome 15

ORPHA:1706

Mosaic trisomy 16 syndrome

Mosaic trisomy chromosome 16 · Trisomy 16 mosaicism

ORPHA:1708

Mosaic trisomy 17 syndrome

Trisomy 17 mosaicism · Mosaic trisomy chromosome 17

ORPHA:1711

OBSOLETE: Anomaly of chromosome 11

ORPHA:261730

Partial deletion of chromosome 11 syndrome

Partial monosomy of chromosome 11

ORPHA:261816

Partial duplication of chromosome 11 syndrome

Partial trisomy of chromosome 11

ORPHA:262653

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

ORPHA:1437

Ring chromosome 10 syndrome

Ring chromosome 10 · Ring 10

ORPHA:1438

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

Ring chromosome 2 syndrome

Ring chromosome 2 · Ring 2

ORPHA:96171

Ring chromosome 20 syndrome

Ring chromosome 20 · Ring 20

ORPHA:1444

Ring chromosome 21 syndrome

ORPHA:1445

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

ORPHA:1446

Ring chromosome 3 syndrome

Ring chromosome 3 · Ring 3

ORPHA:96172

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

ORPHA:1447

Ring chromosome 5 syndrome

Ring chromosome 5 · Ring 5

ORPHA:251043

Ring chromosome 6 syndrome

Ring chromosome 6 · Ring 6

ORPHA:1448

Ring chromosome 7 syndrome

Ring 7 · Ring chromosome 7

ORPHA:1449

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

ORPHA:1450

Ring chromosome 9 syndrome

Ring chromosome 9 · Ring 9

ORPHA:96173

Ring chromosome syndrome

ORPHA:363203

Ring chromosome Y syndrome

r(Y) · Ring chromosome Y

ORPHA:261529

Sex chromosome difference of sex development

Sex chromosome DSD · Sex chromosome disorder of sex development

ORPHA:325546

Tetrasomy 18p syndrome

Isochromosome 18p

ORPHA:3307

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

ORPHA:3380