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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/ |
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DO_rare_slim |
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