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DO Term : vitamin D-dependent rickets type 1B [DOID:0080887] 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 homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15.
  • synonyms:
  • 600081,
  • OMIM:600081,
  • ORDO:289157
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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