Rare Disease Library

Trisomy 20p syndrome

Dup(20p) · Duplication of 20p

ORPHA:261318

Distal duplication 20q syndrome

Distal trisomy 20q · Telomeric duplication 20q

ORPHA:96107

Partial autosomal duplication/triplication syndrome

Partial autosomal trisomy/tetrasomy

ORPHA:98132

Partial deletion of chromosome 1 syndrome

Partial monosomy of chromosome 1

ORPHA:261766

Partial deletion of chromosome 10 syndrome

Partial monosomy of chromosome 10

ORPHA:261811

Partial deletion of chromosome 11 syndrome

Partial monosomy of chromosome 11

ORPHA:261816

Partial deletion of chromosome 12 syndrome

Partial monosomy of chromosome 12

ORPHA:282124

Partial deletion of chromosome 16 syndrome

Partial monosomy of chromosome 16

ORPHA:261826

Partial deletion of chromosome 17 syndrome

Partial monosomy of chromosome 17

ORPHA:261831

Partial deletion of chromosome 18 syndrome

Partial monosomy of chromosome 18

ORPHA:261836

Partial deletion of chromosome 19 syndrome

Partial monosomy of chromosome 19

ORPHA:261841

Partial deletion of chromosome 2 syndrome

Partial monosomy of chromosome 2

ORPHA:261771

Partial deletion of chromosome 20 syndrome

Partial monosomy of chromosome 20

ORPHA:261846

Partial deletion of chromosome 3 syndrome

Partial monosomy of chromosome 3

ORPHA:261776

Partial deletion of chromosome 4 syndrome

Partial monosomy of chromosome 4

ORPHA:261781

Partial deletion of chromosome 5 syndrome

Partial monosomy of chromosome 5

ORPHA:261786

Partial deletion of chromosome 6 syndrome

Partial monosomy of chromosome 6

ORPHA:261791

Partial deletion of chromosome 7 syndrome

Partial monosomy of chromosome 7

ORPHA:261796

Partial deletion of chromosome 8 syndrome

Partial monosomy of chromosome 8

ORPHA:261801

Partial deletion of chromosome 9 syndrome

Partial monosomy of chromosome 9

ORPHA:261806

Partial deletion of chromosome X syndrome

Partial monosomy of chromosome X

ORPHA:263726

Partial deletion of the long arm of chromosome 1 syndrome

Partial deletion of chromosome 1q · Partial monosomy of chromosome 1q

ORPHA:262001

Partial deletion of the long arm of chromosome 10 syndrome

Partial deletion of chromosome 10q · Partial monosomy of the long arm of chromosome 10

ORPHA:262083

Partial deletion of the long arm of chromosome 11 syndrome

Partial deletion of chromosome 11q · Partial monosomy of chromosome 11q

ORPHA:262092

Partial deletion of the long arm of chromosome 12 syndrome

Partial deletion of chromosome 12q · Partial monosomy of chromosome 12q

ORPHA:261821

Partial deletion of the long arm of chromosome 13 syndrome

Partial deletion of chromosome 13q · Partial monosomy of chromosome 13q

ORPHA:262101

Partial deletion of the long arm of chromosome 14 syndrome

Partial deletion of chromosome 14q · Partial monosomy of chromosome 14q

ORPHA:262110

Partial deletion of the long arm of chromosome 15 syndrome

Partial deletion of chromosome 15q · Partial monosomy of chromosome 15q

ORPHA:262119

Partial deletion of the long arm of chromosome 16 syndrome

Partial deletion of chromosome 16q · Partial monosomy of chromosome 16q

ORPHA:262128

Partial deletion of the long arm of chromosome 17 syndrome

Partial deletion of chromosome 17q · Partial monosomy of chromosome 17q

ORPHA:262137

Partial deletion of the long arm of chromosome 18 syndrome

Partial deletion of chromosome 18q · Partial monosomy of chromosome 18q

ORPHA:262146

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

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