Disease Name Symbol Acronym
11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 11B002
11p15-P14 Deletion Syndrome 11P001
12p12.1 Microdeletion Syndrome 12P001
12q14 Microdeletion Syndrome 12Q002
13q12.3 Microdeletion Syndrome 13Q001
14q11.2 Microduplication Syndrome 14Q003
14q12 Microdeletion Syndrome 14Q001
15q14 Microdeletion Syndrome 15Q003
16p11.2 Deletion Syndrome 16P002
16p11.2 Duplication 16P008
16p12.2 Microdeletion 16P009
16q24.3 Microdeletion Syndrome 16Q001
17-Alpha-Hydroxylase Deficiency 17L001
17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 17L002
17-Alpha-Hydroxylase/17,20-Lyase Deficiency 17L004 AH5
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 17B002 MHBD DEFICIENCY
17q12 Deletion Syndrome 17Q010
17q12 Duplication 17Q011
17q12 Recurrent Deletion Syndrome 17Q009
17β-Hydroxysteroid Dehydrogenase Type 10 Deficiency 17H001
18p Deletion Syndrome 18P001
19p13.13 Deletion Syndrome 19P004
1p21.3 Microdeletion Syndrome 1P2001
1q21.1 Deletion 1Q2002
2-Aminoadipic 2-Oxoadipic Aciduria 2MN001 AMOXAD
2-Hydroxyglutaric Aciduria 2HY001 2-HGA
2-Methyl-3-Hydroxybutyric Aciduria 2MT001
2-Methylbutyrylglycinuria 2MT004 SBCADD
2,4-Dienoyl-Coa Reductase Deficiency 24D001 DECRD
20p12.3 Microdeletion Syndrome 20P001
2p16.1-P15 Deletion Syndrome 2P1001
2p21 Microdeletion Syndrome Without Cystinuria 2P2002
2q31.1 Microdeletion Syndrome 2Q3005
2q37 Deletion Syndrome 2Q3001
2q37 Microdeletion Syndrome 2Q3002 BDMR
3 Alpha Methylcrotonyl-Coa Carboxylase 2 Deficiency 3LP001
3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency 3LP002
3-Beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia 3BT002
3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency 3BT003 AH2
3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency 3HY003
3-Hydroxyacyl-Coa Dehydrogenase Deficiency 3HY005 HADH DEFICIENCY
3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 3HY004
3-Hydroxyisobutryl-Coa Hydrolase Deficiency 3HY006 HIBCHD
3-Hydroxyisobutyric Aciduria 3HY001
3-M Syndrome 1 3MS007 3M1
3-M Syndrome 2 3MS005 3M2
3-M Syndrome 3 3MS006 3M3
3-M Syndrome, Ccdc8-Related 3MS002
3-M Syndrome, Cul7-Related 3MS003
3-M Syndrome, Obsl1-Related 3MS004 3M2
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 8 3MT020 MGCA8
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 3MT013 MEGDEL
3-Methylglutaconic Aciduria, Type I 3MT015 MGA1
3-Methylglutaconic Aciduria, Type Iii 3MT016 MGA3
3-Methylglutaconic Aciduria, Type Iv 3MT019 MGA4
3-Methylglutaconic Aciduria, Type V 3MT014 MGA5
3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia 3MT017 MEGCANN
3mc Syndrome 3MC003
3mc Syndrome 1 3MC002 3MC1
3mc Syndrome 2 3MC001 3MC2
3mc Syndrome 3 3MC004 3MC3
3p- Syndrome 3PS001
45,x/46,xy Mixed Gonadal Dysgenesis 45X001
46 Xx Gonadal Dysgenesis 46X002
46 Xy Gonadal Dysgenesis 46X001
46,xx Testicular Disorder of Sex Development 46X003 XX-GD
46,xy Disorder of Sex Development and 46,xy Complete Gonadal Dysgenesis 46X004
46,xy Partial Gonadal Dysgenesis 46X012
46xx Sex Reversal 1 46X029 SRXX1
46xy Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 46X010 PGD
46xy Sex Reversal 1 46X028 SRXY1
46xy Sex Reversal 2, Dosage-Sensitive 46X026 SRXY2
46xy Sex Reversal 3 46X020 SRXY3
46xy Sex Reversal 5 46X025 SRXY5
46xy Sex Reversal 6 46X018 SRXY6
46xy Sex Reversal 7 46X023 SRXY7
46xy Sex Reversal 8 46X021 SRXY8
46xy Sex Reversal 9 46X035 SRXY9
47,xyy Syndrome 47X001
48,xxyy Syndrome 48X003
5-Alpha Reductase Deficiency 5LP001 PPSH
5-Oxoprolinase Deficiency 5XP001 OPLAHD
5q35 Microduplication Syndrome 5Q3001
6-Mercaptopurine Sensitivity 6MR001
6-Phosphogluconate Dehydrogenase Deficiency 6PH001
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
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