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Metadata
ID	DOID:0080886
Name	vitamin D-dependent rickets type 1A
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. https://pubmed.ncbi.nlm.nih.gov/27705794/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/
Xrefs	MIM:264700 ORDO:289157
Subsets	DO_rare_slim
Parent Relationships	is_a vitamin D-dependent rickets is_a autosomal recessive disease