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"

200 matching diseasesClear search ×

Ring chromosome syndrome

ORPHA:363203

Ring chromosome Y syndrome

r(Y) · Ring chromosome Y

ORPHA:261529

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

ORPHA:251028

Sex-chromosome anomaly syndrome

Allosome anomaly

ORPHA:98155

Smith-Magenis syndrome

17p11.2 microdeletion syndrome

ORPHA:819

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

ORPHA:3380

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome

ORPHA:261476

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

ORPHA:1435