|OBO ID: DOID:0080887|
|Term Name:||vitamin D-dependent rickets type 1B||Search Ontology:|
|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. (2)|
|Ontology:||Human Disease (DOID:0080887)|
|is a type of:||
OTHER vitamin D-dependent rickets type 1B PAGES
PHENOTYPE No data available
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