Disease Name Symbol Acronym
1,4-Phenylenediamine Allergic Contact Dermatitis 14P001
10q22.3q23 Microdeletion Syndrome 10Q003
10q22.3q23.3 Microduplication Syndrome 10Q002
10q26 Deletion Syndrome 10Q004
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 Duplication 16P008
16p11.2 Recurrent Microdeletion 16P010
16p11.2p12.2 Microduplication Syndrome 16P005
16p12.1p12.3 Triplication Syndrome 16P011
16p12.2 Microdeletion 16P009
16p12.2 Recurrent Deletion 16P013
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 MPH
17q12 Recurrent Deletion Syndrome 17Q009
17q12 Recurrent Duplication 17Q008
17q24.2 Microdeletion Syndrome 17Q012
18p Deletion Syndrome 18P001
19p13.12 Microdeletion Syndrome 19P001
19p13.13 Deletion Syndrome 19P004
19p13.3 Microduplication Syndrome 19P003
1-Chloro-2,4-Dinitrobenzene Allergic Contact Dermatitis 1CH001
1p21.3 Microdeletion Syndrome 1P2001
1p35.2 Microdeletion Syndrome 1P3003
1q Duplications 1QD001
1q21.1 Recurrent Microdeletion 1Q2003
1q44 Microdeletion Syndrome 1Q4001
2,4-Dienoyl-Coa Reductase Deficiency 24D001 DECRD
2,4-Dinitrophenyl Allergic Contact Dermatitis 24D002
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
2-Aminoadipic 2-Oxoadipic Aciduria 2MN001 AMOXAD
2-Hydroxyethyl Methacrylate Sensitization 2HY002
2-Hydroxyglutaric Aciduria 2HY001 2-HGA
2-Methylacetoacetyl Coa Thiolase Deficiency 2MT002
2-Methylbutyryl-Coa Dehydrogenase Deficiency 2MT003 SBCADD
2p13.2 Microdeletion Syndrome 2P1003
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 HMGCLD
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 3HY011 HMGCS2D
3-Hydroxyacyl-Coa Dehydrogenase Deficiency 3HY005 HADH DEFICIENCY
3-Hydroxyisobutyric Aciduria 3HY001
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 3HY010 HIBCHD
3mc Syndrome 3MC003
3mc Syndrome 1 3MC002 3MC1
3mc Syndrome 2 3MC001 3MC2
3mc Syndrome 3 3MC004 3MC3
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 3MT011 MCC1D
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 3MT008 MCC2D
3-Methylcrotonyl-Coa Carboxylase Deficiency 3MT001 3MCC
3-Methylglutaconic Aciduria 3MT007
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 3MT013 MEGDEL
3-Methylglutaconic Aciduria, Type I 3MT015 MGCA1
3-Methylglutaconic Aciduria, Type Iii 3MT016 MGCA3
3-Methylglutaconic Aciduria, Type Iv 3MT019 MGCA4
3-Methylglutaconic Aciduria, Type Ix 3MT023 MGCA9
3-Methylglutaconic Aciduria, Type V 3MT014 MGCA5
3-Methylglutaconic Aciduria, Type Vii 3MT024 MGCA7
3-Methylglutaconic Aciduria, Type Viii 3MT021 MGCA8
3p25.3 Microdeletion Syndrome 3P2001
3q26 Microduplication Syndrome 3Q2004
3q26q27 Microdeletion Syndrome 3Q2005
3q27.3 Microdeletion Syndrome 3Q2006
45,x/46,xy Mixed Gonadal Dysgenesis 45X001
46 Xx Gonadal Dysgenesis 46X002
46, Xy Disorders of Sexual Development 46X011
46,xx Disorder of Gonadal Development 46X067
46,xx Disorder of Sex Development 46X060
46,xx Disorder of Sex Development Induced by Androgens Excess 46X078
46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 46X069
46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen 46X068
46,xx Disorder of Sex Development Induced by Fetal Androgens Excess 46X075
46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 46X070
46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 46X076
46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 46X040
46,xx Gonadal Dysgenesis Epibulbar Dermoid 46X005
46,xx Sex Reversal 46X081 SRXX
46,xx Sex Reversal 1 46X052 SRXX1
46,xx Sex Reversal 2 46X048 SRXX2
46,xx Sex Reversal 3 46X050 SRXX3
46,xx Sex Reversal 4 46X059 SRXX4
46,xx Sex Reversal 5 46X080 SRXX5
46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 46X054 SERKAL
46,xy Disorder of Gonadal Development 46X065
46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 46X062
46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue 46X077
46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 46X074
46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 46X073
46,xy Disorder of Sex Development Due to Impaired Androgen Production 46X063
46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 46X072
46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors 46X064
46,xy Disorder of Sex Development of Endocrine Origin 46X066
46,xy Disorder of Sex Development of Gynecological Interest 46X061
46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 46X071
46,xy Gonadal Dysgenesis with Minifascicular Neuropathy 46X083 GDMN
46,xy Ovotesticular Disorder of Sex Development 46X015
46,xy Partial Gonadal Dysgenesis 46X012
46,xy Sex Reversal 46X082
46,xy Sex Reversal 1 46X051 SRXY1
46,xy Sex Reversal 10 46X058 SRXY10
46,xy Sex Reversal 11 46X079 SRXY11
46,xy Sex Reversal 2 46X049 SRXY2
46,xy Sex Reversal 3 46X055 SRXY3
46,xy Sex Reversal 4 46X046 SRXY4
46,xy Sex Reversal 5 46X056 SRXY5
46,xy Sex Reversal 6 46X017 SRXY6
46,xy Sex Reversal 7 46X047 SRXY7
46,xy Sex Reversal 8 46X057 SRXY8
46,xy Sex Reversal 9 46X030 SRXY9
47,xyy 47X002
48, Xxxx 48X001
48,xxxy Syndrome 48X002
48,xxyy Syndrome 48X003
48,xyyy 48X005
49, Xxxxx 49X001
49, Xxxxy Syndrome 49X006
49, Xxxyy Syndrome 49X005
49,xyyyy Syndrome 49X004
4-Hydroxyphenylacetic Aciduria 4HY001
4p16.3 Microduplication Syndrome 4P1001
4q25 Proximal Deletion Syndrome 4Q2002
4-Tert-Butylphenol Allergic Contact Dermatitis 4TR001
4-Vinylcyclohexene Dioxide Respiratory Allergy 4VN001
5-Fluorouracil Poisoning 5FL002
5-Nucleotidase Syndrome 5NC001
5-Oxoprolinase Deficiency 5XP001 OPLAHD
5q14.3 Microdeletion Syndrome 5Q1001
5q31.3 Microdeletion Syndrome 5Q3002
5q35 Microduplication Syndrome 5Q3001
6p22 Microdeletion Syndrome 6P2001
6-Phosphogluconate Dehydrogenase Deficiency 6PH001
6-Phosphogluconolactonase Deficiency 6PH002
6q Terminal Deletion Syndrome 6QT002
6q16 Microdeletion Syndrome 6Q1002
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
9p13 Microdeletion Syndrome 9P1001
9q21.13 Microdeletion Syndrome 9Q2003
9q22.3 Microdeletion 9Q2001
9q31.1q31.3 Microdeletion Syndrome 9Q3001
9q33.3q34.11 Microdeletion Syndrome 9Q3002
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