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DO Term : vitamin D-dependent rickets type 1A [DOID:0080886] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 264700,
  • OMIM:264700,
  • ORDO:289157
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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