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"

64 matching diseasesClear search ×

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 anomaly syndrome

Allosome anomaly

ORPHA:98155

Tetrasomy 18p syndrome

Isochromosome 18p

ORPHA:3307

Tetrasomy 21 syndrome

Isochromosome 21

ORPHA:96055

Tetrasomy 5p syndrome

Isochromosome 5p

ORPHA:3309

Tetrasomy 9p syndrome

Isochromosome 9p

ORPHA:3310

Trisomy 10p syndrome

ORPHA:171929

Trisomy 12p syndrome

Duplication 12p

ORPHA:1699

Trisomy 13 syndrome

Patau syndrome

ORPHA:3378

Trisomy 17p syndrome

Dup(17p)

ORPHA:261290

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

X and Y chromosomal anomaly syndrome

ORPHA:263749