Congenital adrenal hyperplasia

Disease Term Disease ID Gene Symbol References
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 315306 CYP21A2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 315311 CYP21A2
Congenital adrenal hyperplasia C0001627 AIRE
AVPR1A 17218722
AVPR2 17218722
CACNA1D
CYP11B1
CYP11B2
CYP17A1 18645707
CYP21A2 16705555, 18445671
GML
NR3C1
HSD3B2 18252794
HTR4 17218722
KCNJ5
POR 18559916
PRKACA
PRKAR1A 15521956
STAR
PDE8B 18272904
USP8
PDE11A
TBC1D24
CDH23
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency C0268292, 90795 CYP11B1 9302260, 8506298, 20331679, 23940125, 15751602, 28228528, 2022736, 16046588, 16670167, 24022297, 26265915, 18663314, 8964882, 24987415, 26053152, 15755848, 24334966, 26476331, 26066897, 8768848, 22964742, 20947076, 17371482, 11549691, 26280318, 24536089, 15807871, 25911436, 17726333, 26956189, 20089618, 9435454, 10487675
GML 8768848, 24987415, 18663314, 25911436, 26956189, 8506298, 10487675, 24536089, 24022297, 23940125, 26476331, 26265915, 26066897, 28228528, 22964742, 2022736, 26053152, 8964882, 16046588, 24334966, 20089618, 26280318, 9435454, 15751602, 16670167, 15807871, 9302260, 17726333, 15755848, 17371482
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 90793 CYP17A1
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency C2936858 CYP21A2 10364682, 20926536, 12788866, 14715874, 9067760, 2303461, 10094562, 3497399, 16984992, 9580109, 12915679, 15126570, 9497336, 2072928, 15623806, 1496017, 1864962, 3257825, 26184415, 20661889, 12788880, 12213891, 14676460, 21134444, 27721825, 8989258, 8081391, 25227725, 2249999, 25538881, 17119906, 1644925, 22014889, 18445671, 25121463, 16046588, 3267225, 21098686, 10720040, 1406709, 12887291, 22313422, 11598371, 12222711, 21228398, 23769969, 18381579, 10931088, 24667412, 20080860, 7749410, 16427797, 10496074, 15110320, 23359698, 11746135, 24953648, 1937474, 24671123, 1406699, 22270556, 21609351, 3871526, 24077358, 10443693, 11232002, 9187661, 3038528, 10408778, 18319307, 2845408, 10198222, 10408786, 25481255, 19263525, 11600539, 23359706, 8478006, 16483186, 10051010, 10391209, 8485582, 20838032, 25041270, 19750867, 23142378, 3260007, 21169732, 22262854, 14513879, 9215318
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 90791 HSD3B2
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 95699 POR
Late onset congenital adrenal hyperplasia C0342467 CYP21A2