vitamin D-dependent rickets, type 2A
Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.
MONDO:0019642
vitamin D-dependent rickets, type 2
is_a
MONDO:0800096
abnormal mineralization disorder
is_a
VDDR2A
related
VDR vitamin D-dependent rickets, type 2
exact
generalised resistance to 1,25-dihydroxyvitamin D
related
hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia
exact
rickets, vitamin D-resistant, type IIA
exact
vitamin D dependent rickets 2a
exact
vitamin D receptor deficiency rickets
exact
vitamin D-dependent rickets, type 2 caused by mutation in VDR
exact
vitamin D-dependent rickets, type 2A
exact
vitamin d-dependent rickets type II with alopecia
exact