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Metadata
ID	DOID:0080887
Name	vitamin D-dependent rickets type 1B
Definition	A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. https://pubmed.ncbi.nlm.nih.gov/26365513/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/
Xrefs	OMIM:600081 ORDO:289157
Subsets	DO_rare_slim
Parent Relationships	is_a vitamin D-dependent rickets is_a autosomal recessive disease