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DO Term : vitamin D-dependent rickets type 2A [DOID:0080884] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 277440,
  • ORDO:93160,
  • OMIM:277440
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents