Term Name: | vitamin D-dependent rickets type 1A |
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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 mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. |
Ontology: | Human Disease [DOID:0080886] ( DOID:0080886 ) |