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MONDO:0018658
Also known as: dup(19)(p13.13)
MONDO:0017405
Also known as: Del(1)p(21.3), monosomy 1p21.3
MONDO:0018697
Also known as: Del(1)(p35.2), deletion 1p35.2, monosomy 1p35.2
MONDO:0016561
Also known as: Del(1)(q44), monosomy 1q44, chromosome 1q44 microdeletion syndrome
MONDO:0008774
Also known as: 2-aminoadipic 2-oxoadipic aciduria, AMOXAD, Ketoadipicaciduria +2 more
MONDO:0012392
Also known as: 2-methylbutyric aciduria, 2-methylbutyryl-CoA dehydrogenase deficiency, 2-methylbutyrylglycinuria +7 more
MONDO:0016841
Also known as: Del(20)(p12.3), monosomy 20p12.3
MONDO:0017780
Also known as: 20p subtelomeric deletion syndrome, Del(20)(p13), monosomy 20p13
MONDO:0018633
Also known as: Del(20)(q11.2), monosomy 20q11
MONDO:0018204
Also known as: dup(20)(q11.2)
MONDO:0016843
Also known as: Del(20)(q13.33), monosomy 20q13.33
MONDO:0016845
Also known as: 21q22.11-q22.12 microdeletion syndrome, Del(21)(q22.11q22.12), monosomy 21q22.11-q22.12 +1 more
MONDO:0018923
Also known as: 22q11DS, Cayler cardiofacial syndrome, Sedlackova syndrome +10 more
MONDO:0018207
Also known as: Del(2)(p13.2)
MONDO:0015583
Also known as: 2p21 deletion syndrome, 2p21 microdeletion syndrome, Del(2)(p21) +1 more
MONDO:0018245
Also known as: Del(2)(p21) without cystinuria
MONDO:0975887
MONDO:0016459
Also known as: Del(2)(q23.1), monosomy 2q23.1, pseudo-Angelman syndrome +1 more
MONDO:0017786
Also known as: dup(2)(q23.1), trisomy 2q23.1
MONDO:0016652
Also known as: Del(2)(q31.1), monosomy 2q31.1