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"

12 matching diseasesClear search ×

Tetrasomy 21 syndrome

Isochromosome 21

ORPHA:96055

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 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

Tetrasomy 18p syndrome

Isochromosome 18p

ORPHA:3307

Tetrasomy 5p syndrome

Isochromosome 5p

ORPHA:3309

Tetrasomy 9p syndrome

Isochromosome 9p

ORPHA:3310