Disease Name Symbol Acronym
10q22.3q23 Microdeletion Syndrome 10Q003
10q22.3q23.3 Microduplication Syndrome 10Q002
11p15.4 Microduplication Syndrome 11P002
11q22.2q22.3 Microdeletion Syndrome 11Q001
12q14 Microdeletion Syndrome 12Q002
12q15q21.1 Microdeletion Syndrome 12Q001
13q12.3 Microdeletion Syndrome 13Q001
14q11.2 Microduplication Syndrome 14Q003
14q12 Microdeletion Syndrome 14Q001
14q24.1q24.3 Microdeletion Syndrome 14Q005
15q Duplication Syndrome and Related Disorders 15Q008
15q13.3 Microduplication Syndrome 15Q006
16p11.2 Deletion Syndrome 16P002
16p11.2 Duplication 16P008
16p11.2 Recurrent Microdeletion 16P010
16p11.2p12.2 Microduplication Syndrome 16P005
16p12.1p12.3 Triplication Syndrome 16P011
16p12.2 Microdeletion 16P009
16p13.11 Microdeletion Syndrome 16P003
16p13.11 Microduplication Syndrome 16P004
16q24.1 Microdeletion Syndrome 16Q002
16q24.3 Microdeletion Syndrome 16Q001
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 17B003
17q12 Deletion Syndrome 17Q010
17q12 Duplication 17Q011
17q12 Recurrent Deletion Syndrome 17Q009
17q12 Recurrent Duplication 17Q008
18p Deletion Syndrome 18P001
19p13.12 Microdeletion Syndrome 19P001
19p13.13 Deletion Syndrome 19P004
1p21.3 Microdeletion Syndrome 1P2001
1p35.2 Microdeletion Syndrome 1P3003
1q Duplications 1QD001
1q21.1 Recurrent Microdeletion 1Q2003
1q44 Microdeletion Syndrome 1Q4001
2-Aminoadipic 2-Oxoadipic Aciduria 2MN001
2-Hydroxyethyl Methacrylate Sensitization 2HY002
2-Hydroxyglutaric Aciduria 2HY001
2-Methyl-3-Hydroxybutyric Aciduria 2MT001
2-Methylacetoacetyl Coa Thiolase Deficiency 2MT002
2-Methylbutyryl-Coa Dehydrogenase Deficiency 2MT003
2,4-Dienoyl-Coa Reductase Deficiency 24D001
20p12.3 Microdeletion Syndrome 20P001
20p13 Microdeletion Syndrome 20P002
20q11.2 Microdeletion Syndrome 20Q003
20q11.2 Microduplication Syndrome 20Q002
20q13.33 Microdeletion Syndrome 20Q001
21q22.11q22.12 Microdeletion Syndrome 21Q001
2p13.2 Microdeletion Syndrome 2P1003
2p21 Microdeletion Syndrome Without Cystinuria 2P2002
2q23.1 Microduplication Syndrome 2Q2002
2q31.1 Microdeletion Syndrome 2Q3005
2q31.1 Microduplication Syndrome 2Q3006
2q37 Deletion Syndrome 2Q3001
3 Alpha Methylcrotonyl-Coa Carboxylase 2 Deficiency 3LP001
3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency 3LP002
3-Beta-Hydroxysteroid Dehydrogenase Deficiency 3BT001
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 3HY007
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 3HY011
3-Hydroxyacyl-Coa Dehydrogenase Deficiency 3HY005
3-Hydroxyisobutyric Aciduria 3HY001
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 3HY010
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 3MT011
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 3MT008
3-Methylcrotonyl-Coa Carboxylase Deficiency 3MT001
3-Methylglutaconic Aciduria 3MT007
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 3MT022
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 3MT013
3-Methylglutaconic Aciduria, Type I 3MT015
3-Methylglutaconic Aciduria, Type Iii 3MT016
3-Methylglutaconic Aciduria, Type Iv 3MT019
3-Methylglutaconic Aciduria, Type Ix 3MT023
3-Methylglutaconic Aciduria, Type V 3MT014
3-Methylglutaconic Aciduria, Type Viii 3MT021
3mc Syndrome 3MC003
3mc Syndrome 1 3MC002
3mc Syndrome 2 3MC001
3mc Syndrome 3 3MC004
3p25.3 Microdeletion Syndrome 3P2001
3q26 Microduplication Syndrome 3Q2004
3q26q27 Microdeletion Syndrome 3Q2005
3q27.3 Microdeletion Syndrome 3Q2006
3q29 Recurrent Deletion 3Q2007
4-Hydroxyphenylacetic Aciduria 4HY001
45,x/46,xy Mixed Gonadal Dysgenesis 45X001
46 Xx Gonadal Dysgenesis 46X002
46 Xy Gonadal Dysgenesis 46X001
46, Xy Disorders of Sexual Development 46X011
46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 46X040
46,xx Gonadal Dysgenesis Epibulbar Dermoid 46X005
46,xx Sex Reversal 1 46X052
46,xx Sex Reversal 2 46X048
46,xx Sex Reversal 3 46X050
46,xx Sex Reversal 4 46X059
46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 46X054
46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 46X053
46,xy Ovotesticular Disorder of Sex Development 46X015
46,xy Partial Gonadal Dysgenesis 46X012
46,xy Sex Reversal 1 46X051
46,xy Sex Reversal 10 46X058
46,xy Sex Reversal 2 46X049
46,xy Sex Reversal 3 46X055
46,xy Sex Reversal 4 46X046
46,xy Sex Reversal 5 46X056
46,xy Sex Reversal 6 46X017
46,xy Sex Reversal 7 46X047
46,xy Sex Reversal 8 46X057
46,xy Sex Reversal 9 46X030
47, Xxy 47X003
47,xyy 47X002
48, Xxxx 48X001
48,xxxy Syndrome 48X002
48,xxyy Syndrome 48X003
48,xyyy 48X005
49, Xxxxx 49X001
49, Xxxyy Syndrome 49X005
49,xxxxy Syndrome 49X002
49,xyyyy Syndrome 49X004
4p16.3 Microduplication Syndrome 4P1001
4q25 Proximal Deletion Syndrome 4Q2002
5-Alpha Reductase Deficiency 5LP001
5-Fluorouracil Poisoning 5FL002
5-Nucleotidase Syndrome 5NC001
5-Oxoprolinase Deficiency 5XP001
5q14.3 Microdeletion Syndrome 5Q1001
5q31.3 Microdeletion Syndrome 5Q3002
5q35 Microduplication Syndrome 5Q3001
6-Phosphogluconate Dehydrogenase Deficiency 6PH001
6-Phosphogluconolactonase Deficiency 6PH002
6p22 Microdeletion Syndrome 6P2001
6q Terminal Deletion Syndrome 6QT002
6q16 Deletion Syndrome 6Q1001
7p22.1 Microduplication Syndrome 7P2001
7q11.23 Duplication Syndrome 7Q1002
7q31 Microdeletion Syndrome 7Q3001
8p Inverted Duplication/deletion Syndrome 8PN001
8p11 Myeloproliferative Syndrome 8P1002
8p11.2 Deletion Syndrome 8P1001
8p23.1 Duplication Syndrome 8P2002
8q12 Microduplication Syndrome 8Q1001
8q24.3 Deletion Syndrome 8Q2002
9p13 Microdeletion Syndrome 9P1001
9q22.3 Microdeletion 9Q2001
9q31.1q31.3 Microdeletion Syndrome 9Q3001
9q33.3q34.11 Microdeletion Syndrome 9Q3002
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