Disease Name Symbol Acronym
1,4-Phenylenediamine Allergic Contact Dermatitis 14P001
10q26 Deletion Syndrome 10Q004
12q14 Microdeletion Syndrome 12Q002
12q15q21.1 Microdeletion Syndrome 12Q001
13q12.3 Microdeletion Syndrome 13Q001
14q11.2 Microduplication Syndrome 14Q003
14q12 Microdeletion Syndrome 14Q001
16p11.2 Deletion Syndrome 16P002
16p11.2 Duplication 16P008
16p12.2 Recurrent Deletion 16P013
16q24.3 Microdeletion Syndrome 16Q001
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 17B003 MPH
17q12 Recurrent Deletion Syndrome 17Q009
17q24.2 Microdeletion Syndrome 17Q012
18p Deletion Syndrome 18P001
19p13.13 Deletion Syndrome 19P004
1-Chloro-2,4-Dinitrobenzene Allergic Contact Dermatitis 1CH001
1p21.3 Microdeletion Syndrome 1P2001
1q21.1 Recurrent Microdeletion 1Q2003
1q44 Microdeletion Syndrome 1Q4001
2,4-Dienoyl-Coa Reductase Deficiency 24D001 DECRD
20p12.3 Microdeletion Syndrome 20P001
21q22.11q22.12 Microdeletion Syndrome 21Q001
2-Aminoadipic 2-Oxoadipic Aciduria 2MN001 AMOXAD
2-Hydroxyglutaric Aciduria 2HY001 2-HGA
2-Methyl-3-Hydroxybutyric Aciduria 2MT001
2-Methylbutyryl-Coa Dehydrogenase Deficiency 2MT003 SBCADD
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
3p Deletion Syndrome 3PD001
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 46X060
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 with Dysgenesis of Kidneys, Adrenals, and Lungs 46X054 SERKAL
46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 46X071
46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 46X053 PGD
46,xy Partial Gonadal Dysgenesis 46X012
46,xy Sex Reversal 1 46X051 SRXY1
46,xy Sex Reversal 10 46X058 SRXY10
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, Xxy 47X003
47,xyy 47X002
48,xxyy Syndrome 48X003
5-Oxoprolinase Deficiency 5XP001 OPLAHD
5q31.3 Microdeletion Syndrome 5Q3002
5q35 Microduplication Syndrome 5Q3001
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
8p11 Myeloproliferative Syndrome 8P1002
8p11.2 Deletion Syndrome 8P1001
9q22.3 Microdeletion 9Q2001
9q33.3q34.11 Microdeletion Syndrome 9Q3002
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