Disease Name Symbol Acronym
12q14 Microdeletion Syndrome 12Q002
13q12.3 Microdeletion Syndrome 13Q001
14q11.2 Microduplication Syndrome 14Q003
14q12 Microdeletion Syndrome 14Q001
16p11.2 Deletion Syndrome 16P002
16p11.2 Duplication 16P008
16q24.3 Microdeletion Syndrome 16Q001
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 17B003
17q12 Deletion Syndrome 17Q010
17q12 Duplication 17Q011
18p Deletion Syndrome 18P001
19p13.13 Deletion Syndrome 19P004
1p21.3 Microdeletion Syndrome 1P2001
1q21.1 Recurrent Microdeletion 1Q2003
1q44 Microdeletion Syndrome 1Q4001
2-Aminoadipic 2-Oxoadipic Aciduria 2MN001
2-Hydroxyglutaric Aciduria 2HY001
2-Methyl-3-Hydroxybutyric Aciduria 2MT001
2-Methylbutyryl-Coa Dehydrogenase Deficiency 2MT003
2,4-Dienoyl-Coa Reductase Deficiency 24D001
20p12.3 Microdeletion Syndrome 20P001
2p21 Microdeletion Syndrome Without Cystinuria 2P2002
2q31.1 Microdeletion Syndrome 2Q3005
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
45,x/46,xy Mixed Gonadal Dysgenesis 45X001
46 Xx Gonadal Dysgenesis 46X002
46 Xy Gonadal Dysgenesis 46X001
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 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,xxyy Syndrome 48X003
5-Alpha Reductase Deficiency 5LP001
5-Hydroxytryptamine Oxygenase Regulator 5HY001
5-Oxoprolinase Deficiency 5XP001
5q31.3 Microdeletion Syndrome 5Q3002
5q35 Microduplication Syndrome 5Q3001
6-Phosphogluconate Dehydrogenase Deficiency 6PH001
6-Phosphogluconolactonase Deficiency 6PH002
6q Terminal Deletion Syndrome 6QT002
6q16 Deletion Syndrome 6Q1001
7p22.1 Microduplication Syndrome 7P2001
7q11.23 Duplication Syndrome 7Q1002
7q31 Microdeletion Syndrome 7Q3001
8p11 Myeloproliferative Syndrome 8P1002
8p11.2 Deletion Syndrome 8P1001
9q22.3 Microdeletion 9Q2001
9q33.3q34.11 Microdeletion Syndrome 9Q3002
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