Term Name: | vitamin D-dependent rickets type 1B |
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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. |
Ontology: | Human Disease [DOID:0080887] ( DOID:0080887 ) |