vitamin D-dependent rickets, type 2B
MONDO:0010931Mondo
Findings
No curated finding names vitamin D-dependent rickets, type 2B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010931), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
6 names
Resolves to: vitamin D-dependent rickets, type 2B
- Also called
- hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopeciavitamin D dependent rickets 2bvitamin D receptor signaling defect ricketsvitamin D receptor signalling defect ricketsvitamin D resistant ricketsvitamin D-dependent rickets type II without alopecia