vitamin D-dependent rickets type 1B

Summary

DOID:0080887 - vitamin D-dependent rickets type 1B

Disease Ontology Definition: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:

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

: cyp2r1

MIM:

MIM:600081 - VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B

MIM:600081 - VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B

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)