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Namespace Prefixes

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obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

_:vb50941803

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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.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ url:https://pubmed.ncbi.nlm.nih.gov/27705794/