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"

82 matching diseasesClear search ×

Partial deletion of the long arm of chromosome 19 syndrome

Partial deletion of chromosome 19q · Partial monosomy of chromosome 19q

ORPHA:262155

Partial deletion of the long arm of chromosome 2 syndrome

Partial deletion of chromosome 2q · Partial monosomy of chromosome 2q

ORPHA:262010

Partial deletion of the long arm of chromosome 20 syndrome

Partial monosomy of the long arm of chromosome 20 · Partial deletion of chromosome 20q

ORPHA:262164

Partial deletion of the long arm of chromosome 21 syndrome

Partial deletion of chromosome 21q · Partial monosomy of chromosome 21q

ORPHA:262173

Partial deletion of the long arm of chromosome 22 syndrome

Partial deletion of chromosome 22q · Partial monosomy of chromosome 22q

ORPHA:262182

Partial deletion of the long arm of chromosome 3 syndrome

Partial deletion of chromosome 3q · Partial monosomy of chromosome 3q

ORPHA:262019

Partial deletion of the long arm of chromosome 4 syndrome

Partial deletion of chromosome 4q · Partial monosomy of chromosome 4q

ORPHA:262029

Partial deletion of the long arm of chromosome 5 syndrome

Partial deletion of chromosome 5q · Partial monosomy of chromosome 5q

ORPHA:262038

Partial deletion of the long arm of chromosome 6 syndrome

Partial deletion of chromosome 6q · Partial monosomy of chromosome 6q

ORPHA:262047

Partial deletion of the long arm of chromosome 7 syndrome

Partial deletion of chromosome 7q · Partial monosomy of chromosome 7q

ORPHA:262056

Partial deletion of the long arm of chromosome 8 syndrome

Partial deletion of chromosome 8q · Partial monosomy of chromosome 8q

ORPHA:262065

Partial deletion of the long arm of chromosome 9 syndrome

Partial deletion of chromosome 9q · Partial monosomy of the long arm of chromosome 9

ORPHA:262074

Partial deletion of the long arm of chromosome X syndrome

Partial deletion of chromosome Xq · Partial monosomy of chromosome Xq

ORPHA:263756

Partial deletion of the short arm of chromosome 1 syndrome

Partial deletion of chromosome 1p · Partial monosomy of chromosome 1p

ORPHA:261857

Partial deletion of the short arm of chromosome 10 syndrome

Partial deletion of chromosome 10p · Partial monosomy of chromosome 10p

ORPHA:261938

Partial deletion of the short arm of chromosome 11 syndrome

Partial deletion of chromosome 11p · Partial monosomy of chromosome 11p

ORPHA:261947

Partial deletion of the short arm of chromosome 12 syndrome

Partial deletion of chromosome 12p · Partial monosomy of chromosome 12p

ORPHA:316244

Partial deletion of the short arm of chromosome 16 syndrome

Partial deletion of chromosome 16p · Partial monosomy of chromosome 16p

ORPHA:261956

Partial deletion of the short arm of chromosome 17 syndrome

Partial deletion of chromosome 17p · Partial monosomy of the short arm of chromosome 17

ORPHA:261965

Partial deletion of the short arm of chromosome 18 syndrome

Partial deletion of chromosome 18p · Partial monosomy of chromosome 18p

ORPHA:261974

Partial deletion of the short arm of chromosome 19 syndrome

Partial deletion of chromosome 19p · Partial monosomy of chromosome 19p

ORPHA:261983

Partial deletion of the short arm of chromosome 2 syndrome

Partial deletion of chromosome 2p · Partial monosomy of chromosome 2p

ORPHA:261866

Partial deletion of the short arm of chromosome 20 syndrome

Partial deletion of chromosome 20p · Partial monosomy of the short arm of chromosome 20

ORPHA:261992

Partial deletion of the short arm of chromosome 3 syndrome

Partial deletion of chromosome 3p · Partial monosomy of chromosome 3p

ORPHA:261875

Partial deletion of the short arm of chromosome 4 syndrome

Partial deletion of chromosome 4p · Partial monosomy of chromosome 4p

ORPHA:261884

Partial deletion of the short arm of chromosome 5 syndrome

Partial deletion of chromosome 5p · Partial monosomy of chromosome 5p

ORPHA:261893

Partial deletion of the short arm of chromosome 6 syndrome

Partial deletion of chromosome 6p · Partial monosomy of chromosome 6p

ORPHA:261902

Partial deletion of the short arm of chromosome 7 syndrome

Partial deletion of chromosome 7p · Partial monosomy of chromosome 7p

ORPHA:261911

Partial deletion of the short arm of chromosome 8 syndrome

Partial deletion of chromosome 8p · Partial monosomy of chromosome 8p

ORPHA:261920

Partial deletion of the short arm of chromosome 9 syndrome

Partial deletion of chromosome 9p · Partial monosomy of chromosome 9p

ORPHA:261929

Partial deletion of the short arm of the chromosome X syndrome

Partial deletion of chromosome Xp · Partial deletion of the short arm of chromosome X

ORPHA:263731

Paternal 20q13.2q13.3 microdeletion syndrome

Paternal del(20)(q13.2q13.3) · Paternal monosomy 20q13.2q13.3

ORPHA:261304

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

ORPHA:251028

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

ORPHA:904