Disease Name Symbol Acronym
11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 11B002
11p15-P14 Deletion Syndrome 11P001
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-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 17L002
17-Alpha-Hydroxylase/17,20-Lyase Deficiency 17L004
17q12 Deletion Syndrome 17Q010
17q12 Duplication 17Q011
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
1q44 Microdeletion Syndrome 1Q4001
2-Aminoadipic 2-Oxoadipic Aciduria 2MN001
2-Hydroxyglutaric Aciduria 2HY001
2-Methyl-3-Hydroxybutyric Aciduria 2MT001
2-Methylbutyrylglycinuria 2MT004
2,4-Dienoyl-Coa Reductase Deficiency 24D001
20p12.3 Microdeletion Syndrome 20P001
2p16.1-P15 Deletion Syndrome 2P1001
2p21 Microdeletion Syndrome Without Cystinuria 2P2002
2q31.1 Microdeletion Syndrome 2Q3005
2q37 Microdeletion Syndrome 2Q3002
3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency 3LP002
3-Beta-Hydroxysteroid Dehydrogenase Deficiency 3BT001
3-Beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia 3BT002
3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency 3HY002
3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency 3HY003
3-Hydroxyacyl-Coa Dehydrogenase Deficiency 3HY005
3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 3HY004
3-Hydroxyisobutryl-Coa Hydrolase Deficiency 3HY006
3-Hydroxyisobutyric Aciduria 3HY001
3-M Syndrome 1 3MS007
3-M Syndrome 2 3MS005
3-M Syndrome 3 3MS006
3-M Syndrome, Ccdc8-Related 3MS002
3-M Syndrome, Cul7-Related 3MS003
3-M Syndrome, Obsl1-Related 3MS004
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 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 V 3MT014
3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia 3MT017
3-Methylglutaconic Aciduria, Type Viii 3MT021
3mc Syndrome 3MC003
3mc Syndrome 1 3MC002
3mc Syndrome 2 3MC001
3mc Syndrome 3 3MC004
3p- Syndrome 3PS001
45,x/46,xy Mixed Gonadal Dysgenesis 45X001
46 Xx Gonadal Dysgenesis 46X002
46 Xy Gonadal Dysgenesis 46X001
46, Xx Sex Reversal 4 46X045
46,xy Disorder of Sex Development and 46,xy Complete Gonadal Dysgenesis 46X004
46,xy Partial Gonadal Dysgenesis 46X012
46xx Sex Reversal 1 46X029
46xy Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 46X010
46xy Sex Reversal 1 46X028
46xy Sex Reversal 2, Dosage-Sensitive 46X026
46xy Sex Reversal 3 46X020
46xy Sex Reversal 5 46X025
46xy Sex Reversal 6 46X018
46xy Sex Reversal 7 46X023
46xy Sex Reversal 8 46X021
46xy Sex Reversal 9 46X035
48,xxyy Syndrome 48X003
5-Alpha Reductase Deficiency 5LP001
5-Oxoprolinase Deficiency 5XP001
5q31.3 Microdeletion Syndrome 5Q3002
5q35 Microduplication Syndrome 5Q3001
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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