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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:1030016
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:0015566
Also known as: Del(2)(q24), monosomy 2q24, 2q24 deletion +2 more
MONDO:0016652
Also known as: Del(2)(q31.1), monosomy 2q31.1
MONDO:0016653
Also known as: Del(2)(q33.1), monosomy 2q33.1
MONDO:0010886
Also known as: 2q37 microdeletion syndrome, 2q37 monosomy, Albright hereditary osteodystrophy type 3 +12 more
MONDO:0007477
Also known as: 3-M syndrome, Dolichospondylic dysplasia, Le Merrer syndrome +13 more
MONDO:0009520
Also known as: 3-OH 3-Methyl glutaric aciduria, 3-hydroxy-3-methylglutaric aciduria, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency +10 more
MONDO:0011614
Also known as: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMG-CoA synthase deficiency, HMG-CoA synthase-2 deficiency +5 more
MONDO:0017715
MONDO:0009371
Also known as: 3-hydroxyisobutyric aciduria, disorder of valine metabolism