Disease Directory

16q24.1 microdeletion syndrome

MONDO:0018127

Also known as: Del(16)(q24.1), monosomy 16q24.1

16q24.3 microdeletion syndrome

MONDO:0016838

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

17,20-lyase deficiency, isolated

MONDO:0800378

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

MONDO:0800379

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

MONDO:0800380

17q11.2 microduplication syndrome

MONDO:0015350

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

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-aminoadipic 2-oxoadipic aciduria

MONDO:0008774

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

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

2-methylbutyryl-CoA dehydrogenase deficiency

MONDO:0012392

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

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