Disease Directory

10p13-p14 deletion syndrome

MONDO:0975905

10p15 microdeletion syndrome

MONDO:0975904

10q22.3q23.3 microduplication syndrome

MONDO:0017180

Also known as: dup(10)(q22.3q23.3), trisomy 10q22.3q23.3

11p15.4 microduplication syndrome

MONDO:0017580

Also known as: dup(11)p(15.4), trisomy 11p15.4

11q22.2q22.3 microdeletion syndrome

MONDO:0018632

Also known as: 11q22.2-q22.3 deletion syndrome, Del(11)(q22.2q22.3), monosomy 11q22.2-q22.3 +1 more

12p12.1 microdeletion syndrome

MONDO:0017781

Also known as: Del(12)(p12.1), monosomy 12p12.1

12q14 microdeletion syndrome

MONDO:0019784

Also known as: Del(12)(q14), deletion 12q14, monosomy 12q14 +1 more

12q15q21.1 microdeletion syndrome

MONDO:0017334

Also known as: Del(12)(q15)(q21.1), deletion 12q15q21.1, monosomy 12q15q21.1

13q12.3 microdeletion syndrome

MONDO:0018474

Also known as: Del(13)(q12.3), monosomy 13q12.3

14q11.2 microduplication syndrome

MONDO:0016835

Also known as: dup(14)(q11.2), trisomy 14q11.2

14q12 microdeletion syndrome

MONDO:0016833

Also known as: Del(14)(q12), monosomy 14q12

14q24.1q24.3 microdeletion syndrome

MONDO:0018429

Also known as: Del(14)(q24.1q24.3), monosomy 14q24.1q24.3

14q32 duplication syndrome

MONDO:0014707

Also known as: dup(14)q(32), predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication, trisomy 14q32 +2 more

15q overgrowth syndrome

MONDO:0017806

Also known as: 15q26 overgrowth syndrome

15q11q13 microduplication syndrome

MONDO:0012081

Also known as: 15q11-q13 duplication syndrome, 15q11-q13 microduplication syndrome, 15q11q13 duplication syndrome +9 more

15q14 microdeletion syndrome

MONDO:0014822

Also known as: Del(15)(q14), monosomy 15q14, chromosome 15q14 deletion syndrome

16p11.2p12.2 microduplication syndrome

MONDO:0016834

Also known as: 16p11.2 microduplication syndrome, 16p11.2-p12.2 microduplication syndrome, dup(16)(p11.2p12.2) +1 more

16p12.1p12.3 triplication syndrome

MONDO:0044621

Also known as: tetrasomy 16p12.1-p12.3, tetrasomy 16p12.1p12.3, trip(16)(p12.1p12.3)

16p13.11 microdeletion syndrome

MONDO:0016836

Also known as: 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus), Del(16)(p13.11), monosomy 16p13.11

16p13.11 microduplication syndrome

MONDO:0016837

Also known as: 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus), dup(16)(p13.11), trisomy 16p13.11