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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

MIM:600081

ORDO:289157

Subsets

DO_rare_slim

Parent Relationships

is_a vitamin D-dependent rickets

is_a autosomal recessive disease

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