Term Name: | vitamin D-dependent rickets type 2A |
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Synonyms: | |
Definition: | A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. |
Ontology: | Human Disease [DOID:0080884] ( DOID:0080884 ) |