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"

19 matching diseasesClear search ×

Tetrasomy 18p syndrome

Isochromosome 18p

ORPHA:3307

Isochromosome Y syndrome

ORPHA:96325

Isochromosomy Yp syndrome

ORPHA:98797

Isochromosomy Yq syndrome

ORPHA:98798

Pallister-Killian syndrome

Isochromosome 12p mosaicism · Isochromosome 12p syndrome

ORPHA:884

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

Tetrasomy 21 syndrome

Isochromosome 21

ORPHA:96055

Tetrasomy 5p syndrome

Isochromosome 5p

ORPHA:3309

Tetrasomy 9p syndrome

Isochromosome 9p

ORPHA:3310