Metadata | |
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ID | DOID:0080884 |
Name | vitamin D-dependent rickets type 2A |
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. https://pubmed.ncbi.nlm.nih.gov/27705794/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |