has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of CYP2R1 vitamin D3 25-hydroxylase activity inherited lipid metabolism disorder vitamin D-dependent rickets, type 1 vitamin D hydroxylation-deficient rickets, type 1B https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/vitamin_d_hydroxylation_deficient_rickets_type_1b MONDO:0010810 MEDGEN:374020 vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1 GARD:0018415 OMIM:600081 vitamin D hydroxylation-deficient rickets, type 1B Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency vitamin D 25-Hydroxylase deficiency DOID:0080887 Vitam D hydroxylation-deficient rickets type 1b UMLS:C1838657 vitamin D-dependent rickets, type 1B 25-Hydroxyvitamin D3 deficiency, selective An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets. NCIT:C131074 VDDR1B rickets due to defect in vitamin D 25-hydroxylation deficiency MESH:C564005 CYP2R1 vitamin D-dependent rickets, type 1 vitamin D hydroxylation-deficient rickets type 1b steroid metabolism disease abnormal mineralization disorder