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Disease Name Symbol Acronym
11-beta-hydroxylase Deficiency 11B001
11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia 11B002
17-alpha-hydroxylase Deficiency 17L001
17-alpha-hydroxylase/17,20-lyase Deficiency 17L004
17-beta Hydroxysteroid Dehydrogenase 3 Deficiency 17B001
17-beta-hydroxysteroid Dehydrogenase X Deficiency 17B002
17,20-lyase Deficiency, Isolated 172001
2-hydroxyglutaric Aciduria 2HY001 2-HGA
2-methylbutyryl-coa Dehydrogenase Deficiency 2MT003 2-MBG
21-hydroxylase Deficiency 21H001 CAH
21-hydroxylase-deficient Congenital Adrenal Hyperplasia 21H002
3 Methylcrotonyl-coa Carboxylase 1 Deficiency 3MT003 3MCC
3 Methylglutaconic Aciduria Type I 3MT004
3 Methylglutaconic Aciduria Type Iv 3MT005
3 Methylglutaconic Aciduria Type V 3MT006 MGA 5
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-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 3MS001 3M1
3-methylcrotonyl-coa Carboxylase 2 Deficiency 3MT008
3-methylcrotonyl-coa Carboxylase Deficiency 3MT001 3MCC
3-methylglutaconic Aciduria 3MT007 3MGA
3-methylglutaconic Aciduria Type 3 3MT002 MGA3
46 Xy Gonadal Dysgenesis 46X001
46, Xy Disorders of Sex Development 46X006
46,xx Testicular Disorder of Sex Development 46X003
48,xxyy Syndrome 48X003
5-alpha Reductase Deficiency 5LP001 PPSH
5-fluorouracil Toxicity 5FL001
6-pyruvoyltetrahydropterin Synthase Deficiency 6PY001