Additional Disease Briefs

congenital absence of both lower leg and foot

Also known as: tibiofibular terminal transverse meromelia

congenital absence of septum pellucidum

Also known as: absence of septum pellucidum

congenital absence of thigh and lower leg with foot present

Also known as: Femorotibiofibular intercalary transverse meromelia

congenital absence of upper arm and forearm with hand present

Also known as: humero-radio-ulnar intercalary transverse meromelia, phocomelia

congenital acardia

Also known as: acardia, congenital absence of the heart

congenital accessory mitral valve tissue

congenital achiasma

congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Also known as: 11-Beta-Hydroxylase deficiency, CAH due to 11-beta-hydroxylase deficiency, CYP11B1 deficiency, P450C11B1 deficiency, adrenal hyperplasia 4, adrenal hyperplasia IV, adrenal hyperplasia hypertensive form, adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency, adrenal hyperplasia, hypertensive form, steroid 11-Beta-Hydroxylase deficiency

congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

Also known as: 17,20-lyase deficiency, isolated, 17-Alpha-Hydroxylase deficiency, 17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete, 17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial, 17-alpha-hydroxylase/17,20-lyase deficiency, CAH due to 17-alpha-hydroxylase deficiency, adrenal hyperplasia 5, adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency, combined 17-hydroxylase/17,20-lyase deficiency, congenital adrenal hyperplasia type 5