vitamin D-dependent rickets, type 2B https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/vitamin_d_dependent_rickets_type_2b https://www.malacards.org/card/vitamin_d_dependent_rickets_type_2b_with_normal_vitamin_d_receptor vitamin D dependent rickets 2b GARD:0018170 MEDGEN:411667 Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. UMLS:C2748783 VDDR2B NCIT:C131076 vitamin D receptor signaling defect rickets MONDO:0010931 SCTID:237895001 hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia vitamin D receptor signalling defect rickets OMIM:600785 vitamin D-dependent rickets, type 2B, with normal vitamin D receptor vitamin D resistant rickets vitamin D-dependent rickets type II without alopecia NANDO:1200779 DOID:0080885 vitamin D-dependent rickets, type 2 abnormal mineralization disorder