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Showing 20 of 7,164 diseases

10q22.3q23.3 microduplication syndrome

MONDO:0017180

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

AI Generated

Rare

12q14 microdeletion syndrome

MONDO:0019784

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

AI Generated

Rare

14q12 microdeletion syndrome

MONDO:0016833

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

AI Generated

Rare

14q24.1q24.3 microdeletion syndrome

MONDO:0018429

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

AI Generated

Rare

15q overgrowth syndrome

MONDO:0017806

Also known as: 15q26 overgrowth syndrome

AI Generated

Rare

15q11q13 microduplication syndrome

MONDO:0012081

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

AI Generated

Rare

15q14 microdeletion syndrome

MONDO:0014822

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

DEL15Q14

AI Generated

Rare

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

AI Generated

Rare

16p13.11 microdeletion syndrome

MONDO:0016836

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

AI Generated

Rare

16p13.11 microduplication syndrome

MONDO:0016837

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

AI Generated

Rare

16q24.3 microdeletion syndrome

MONDO:0016838

Also known as: Del(16)(q24.3), monosomy 16q24.3, chromosome 16q24.3 microdeletion syndrome

AI Generated

Rare

17q11.2 microduplication syndrome

MONDO:0015350

Also known as: Grisart-Destree syndrome, Grisart-Destrée syndrome, Nf1 Microduplication Syndrome +3 more

DUP17Q11.2

AI Generated

Rare

1q44 microdeletion syndrome

MONDO:0016561

Also known as: Del(1)(q44), monosomy 1q44, chromosome 1q44 microdeletion syndrome

AI Generated

Rare

2-aminoadipic 2-oxoadipic aciduria

MONDO:0008774

Also known as: 2-aminoadipic 2-oxoadipic aciduria, AMOXAD, Ketoadipicaciduria +2 more

DHTKD1

AI Generated

Rare

2-hydroxyglutaric aciduria

MONDO:0016001

Also known as: 2-hydroxyglutaric acidemia, 2-hydroxyglutaric aciduria, 2-HGA

AI Generated

Rare

2-methylbutyryl-CoA dehydrogenase deficiency

MONDO:0012392

Also known as: 2-methylbutyric aciduria, 2-methylbutyryl-CoA dehydrogenase deficiency, 2-methylbutyrylglycinuria +7 more

ACADSB

AI Generated

Rare

20p12.3 microdeletion syndrome

MONDO:0016841

Also known as: Del(20)(p12.3), monosomy 20p12.3

AI Generated

Rare

20p13 microdeletion syndrome

MONDO:0017780

Also known as: 20p subtelomeric deletion syndrome, Del(20)(p13), monosomy 20p13

AI Generated

Rare

20q11.2 microduplication syndrome

MONDO:0018204

Also known as: dup(20)(q11.2)

AI Generated

Rare

20q13.33 microdeletion syndrome

MONDO:0016843

Also known as: Del(20)(q13.33), monosomy 20q13.33

AI Generated

Rare

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