vitamin D-dependent rickets type 1B

Term ID

DOID:0080887

Synonyms

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)

References

• OMIM:600081
• ORDO:289157

Ontology

Human Disease   ( DOID:0080887 )