vitamin D-dependent rickets, type 1
Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
MONDO:0017323
hypocalcemic rickets
is_a
MONDO:0024299
vitamin D-dependent rickets
is_a
1 Alpha-hydroxylase deficiency
exact
1-alpha-hydroxylase deficiency
exact
PDDRI
exact
VDDI
exact
VDDR-I
exact
VDDR1
exact
hypocalcemic vitamin D-dependent rickets
exact
pseudo vitamin-D deficient rickets
exact
pseudovitamin D-deficient rickets
exact
selective 1-alpha, 25-hydroxyvitamin D3 deficiency
exact
vitamin D 1 Alpha-Hydroxylase deficiency
exact
vitamin D dependent rickets type I
exact
vitamin D-dependency type I
exact
vitamin D-dependent rickets type 1
exact