vitamin D-dependent rickets type 2A

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Summary

Literature (0)

DOID:0080884 - vitamin D-dependent rickets type 2A

Disease Ontology Definition: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:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: vdr

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), vitamin D-dependent rickets (is_a)