FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term vitamin D-dependent rickets type 1B ID (Ontology) DOID:0080887 (Human Disease)
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.
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 vitamin D-dependent rickets type 1B       1
 for disease ribbon | vitamin D-dependent rickets type 1B       1
 model of | vitamin D-dependent rickets type 1B       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
bone development disease         |
 |__vitamin D-dependent rickets__|
                                 vitamin D-dependent rickets type 1B  1 rec.
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Is a autosomal recessive disease
vitamin D-dependent rickets
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MIM:600081
ORDO:289157