Disease Directory

17-alpha-hydroxylase/17,20-lyase deficiency, combined complete

MONDO:0800379

17-alpha-hydroxylase/17,20-lyase deficiency, combined partial

MONDO:0800380

17q24.2 microdeletion syndrome

MONDO:0035151

Also known as: Del(17)(q24)

19p13.12 microdeletion syndrome

MONDO:0016765

Also known as: Del(19)(p13.12), monosomy 19p13.12, Chromosome19p13.12 microdeletion

19p13.3 microduplication syndrome

MONDO:0018658

Also known as: dup(19)(p13.13)

1p21.3 microdeletion syndrome

MONDO:0017405

Also known as: Del(1)p(21.3), monosomy 1p21.3

1p35.2 microdeletion syndrome

MONDO:0018697

Also known as: Del(1)(p35.2), deletion 1p35.2, monosomy 1p35.2

1q44 microdeletion syndrome

MONDO:0016561

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

2-hydroxyethyl methacrylate sensitization

MONDO:0022323

Also known as: 2-HEMA sensitization, sensitization to 2-hydroxyethyl methacrylate

2-hydroxyglutaric aciduria

MONDO:0016001

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

2-methylacetoacetyl CoA thiolase deficiency

MONDO:0022321

20p12.3 microdeletion syndrome

MONDO:0016841

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

20p13 microdeletion syndrome

MONDO:0017780

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

20q11.2 microdeletion syndrome

MONDO:0018633

Also known as: Del(20)(q11.2), monosomy 20q11

20q11.2 microduplication syndrome

MONDO:0018204

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

20q13.33 microdeletion syndrome

MONDO:0016843

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

21q22.11q22.12 microdeletion syndrome

MONDO:0016845

Also known as: 21q22.11-q22.12 microdeletion syndrome, Del(21)(q22.11q22.12), monosomy 21q22.11-q22.12 +1 more

22q-related schwannomatosis

MONDO:1030016

22q11.2 deletion syndrome

MONDO:0018923

Also known as: 22q11DS, Cayler cardiofacial syndrome, Sedlackova syndrome +10 more

2p13.2 microdeletion syndrome

MONDO:0018207

Also known as: Del(2)(p13.2)