vitamin B12-unresponsive methylmalonic acidemia type mut-
Also known as: partial deficiency of methylmalonyl-CoA mutase, vitamin B12-unresponsive methylmalonic aciduria type mut-
Additional Disease Briefs
vitamin B12-unresponsive methylmalonic acidemia type mut0
Also known as: complete deficiency of methylmalonyl-CoA mutase, vitamin B12-unresponsive methylmalonic aciduria type mut0
vitamin D hydroxylation-deficient rickets, type 1B
Also known as: 25-Hydroxyvitamin D3 deficiency, selective, CYP2R1 vitamin D-dependent rickets, type 1, Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency, VDDR1B, Vitam D hydroxylation-deficient rickets type 1b, rickets due to defect in vitamin D 25-hydroxylation deficiency, vitamin D 25-Hydroxylase deficiency, vitamin D hydroxylation-deficient rickets type 1b, vitamin D hydroxylation-deficient rickets, type 1B, vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1, vitamin D-dependent rickets, type 1B
vitamin D-dependent rickets, type 1
Also known as: 1 Alpha-hydroxylase deficiency, 1-alpha-hydroxylase deficiency, PDDRI, VDDI, VDDR-I, VDDR1, hypocalcemic vitamin D-dependent rickets, pseudo vitamin-D deficient rickets, pseudovitamin D-deficient rickets, selective 1-alpha, 25-hydroxyvitamin D3 deficiency, vitamin D 1 Alpha-Hydroxylase deficiency, vitamin D dependency, type 1, vitamin D dependent rickets type I, vitamin D-dependency type I, vitamin D-dependent rickets type 1
vitamin D-dependent rickets, type 1A
Also known as: 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective, 1-Alpha-Hydroxylase deficiency, 25-hydroxycholecalciferol-1-Hydroxylase deficiency, PDDR 1A, VDDR1A, pseudovitamin D-deficiency rickets, type 1A, vitamin D dependency, type 1, vitamin D hydroxylation-deficient rickets, type 1A, vitamin D-dependent rickets, type 1A, vitamin D-dependent rickets, type I
vitamin D-dependent rickets, type 2A
Also known as: Pddr 2A, Pseudovitamin D-deficiency, type 2A, VDDR2A, VDR vitamin D-dependent rickets, type 2, generalised resistance to 1,25-dihydroxyvitamin D, generalized resistance to 1,25-dihydroxyvitamin D, hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia, hypocalcemic vitamin D-resistant rickets, rickets, hereditary vitamin D-resistant, rickets, vitamin D-resistant, type IIA, rickets-alopecia syndrome, vitamin D dependent rickets 2a, vitamin D receptor deficiency rickets, vitamin D-dependent rickets, type 2 caused by mutation in VDR, vitamin D-dependent rickets, type 2A, vitamin D-dependent rickets, type 2A, with or without alopecia, vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol, vitamin d-dependent rickets type II with alopecia
vitamin D-dependent rickets, type 2B
Also known as: VDDR2B, hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia, vitamin D dependent rickets 2b, vitamin D receptor signaling defect rickets, vitamin D receptor signalling defect rickets, vitamin D resistant rickets, vitamin D-dependent rickets type II without alopecia, vitamin D-dependent rickets, type 2B, with normal vitamin D receptor
vitamin K-antagonist embryofetopathy
Also known as: DiSala syndrome, congenital warfarin syndrome, coumarin embryopathy, coumarin syndrome, di Sala syndrome, embryofetopathy due to oral anticoagulant therapy, fetal Coumadin syndrome, fetal anticoagulant syndrome, fetal warfarin syndrome, foetal Coumadin syndrome, foetal anticoagulant syndrome, foetal warfarin syndrome, vitamin K antagonist embryofetopathy, vitamin K antagonist embryopathy, vitamin K antagonists embryofetopathy, vitamin K-antagonist embryofetopathy, vitamin K-antagonist embryopathy, warfarin embryofetopathy, warfarin embryopathy, warfarin syndrome
vitamin K-dependent clotting factors, combined deficiency of, type 1
Also known as: FMFD 3, GGCX congenital vitamin K-dependent coagulation factors combined deficiency, VKCFD1, Vkcfd, congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX, factors II, VII, IX, and X, combined deficiency of, familial multiple coagulation Factor deficiency 3, glutamic acid, deficient gamma-carboxylation of, hereditary combined deficiency of factors II, VII, IX and X, hereditary combined deficiency of vitamin K-dependent clotting factors, multiple coagulation Factor deficiency 3, vitamin K-dependent clotting factors, combined deficiency of, 1, vitamin K-dependent clotting factors, combined deficiency of, type 1, vitamin K-dependent coagulation defect
vitamin K-dependent clotting factors, combined deficiency of, type 2
Also known as: VKCFD2, VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency, congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1, vitamin K-dependent clotting factors, combined deficiency of, 2, vitamin K-dependent clotting factors, combined deficiency of, type 2