Rare Disease Library

Oncogenic osteomalacia

Oncogenic hypophosphatemic osteomalacia · TIO

10p13-p14 deletion syndrome

Del(10)(p13p14) · Deletion 10p13-p14

10q22.3q23.3 microdeletion syndrome

Del(10)(q22.3q23.3) · Deletion 10q22.3q23.3

10q22.3q23.3 microduplication syndrome

Dup(10)(q22.3q23.3) · Trisomy 10q22.3q23.3

11p15.4 microduplication syndrome

Dup(11)p(15.4) · Trisomy 11p15.4

11q22.2q22.3 microdeletion syndrome

Monosomy 11q22.2q22.3 · Del(11)(q22.2q22.3)

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

12q15q21 microdeletion syndrome

Del(12)(q15)(q21) · Deletion 12q15q21

13q12.3 microdeletion syndrome

Del(13)(q12.3) · Monosomy 13q12.3

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

14q22q23 microdeletion syndrome

14q22-q23 microdeletion syndrome · Del(14)(q22q23)

14q24.1q24.3 microdeletion syndrome

Del(14)(q24.1q24.3) · Monosomy 14q24.1q24.3

14q32 duplication syndrome

Dup(14)q(32) · Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication

15q11.2 microdeletion syndrome

15q11.2 BP1-BP2 microdeletion syndrome · Del(15)(q11.2)

15q11q13 microduplication syndrome

15q11q13 duplication syndrome · Dup(15)(q11q13)

15q13.3 microdeletion syndrome

Del(15)(q13.3) · Monosomy 15q13.3

15q24 microdeletion syndrome

Del(15)(q24) · Monosomy 15q24

16p11.2p12.2 microdeletion syndrome

Del(16)(p11.2p12.2) · Monosomy 16p11.2p12.2

16p11.2p12.2 microduplication syndrome

Dup(16)(p11.2p12.2) · Trisomy 16p11.2p12.2

16p12.1p12.3 triplication syndrome

Tetrasomy 16p12.1p12.3 · Trip(16)(p12.1p12.3)

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

16q22 deletion syndrome

16q24.1 microdeletion syndrome

Del(16)(q24.1) · Monosomy 16q24.1

16q24.3 microdeletion syndrome

Del(16)(q24.3) · Monosomy 16q24.3

17p11.2 microduplication syndrome

Potocki-Lupski syndrome · Trisomy 17p11.2

17p13.3 microduplication syndrome

17p13.3 duplication syndrome · Dup(17)(p13.3)

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q11.2 microduplication syndrome

Dup(17)(q11.2) · Grisart-Destrée syndrome

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

17q21.31 microdeletion syndrome

Del(17)(q21.31) · Monosomy 17q21.31

17q21.31 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

17q23.1q23.2 microdeletion syndrome

Del(17)(q23.1q23.2) · Monosomy 17q23.1q23.2

17q24.2 microdeletion syndrome

Del(17)(q24)

19p13.12 microdeletion syndrome

Del(19)(p13.12) · Monosomy 19p13.12

19p13.13 microdeletion syndrome

Del(19)(p13.13) · Monosomy 19p13.13

19p13.3 microduplication syndrome

Dup(19)(p13.3)

19q13.11 microdeletion syndrome

Del(19)(q13.11) · Monosomy 19q13.11

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

1p31p32 microdeletion syndrome

Del(1)(p31p32) · Monosomy 1p31p32

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

1p36.33 duplication syndrome

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1