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Summary Literature (2)
DOID:10609 - rickets


Disease Ontology Definition:A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.

Synonyms: active rickets, vitamin D hydroxylation-deficient rickets, vitamin D-dependent rickets

In OMIM:
OMIM:264700 - VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A
OMIM:277440 - VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A
OMIM:600081 - VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B
OMIM:600785 - VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR; VDDR2B

In Mondo Disease Ontology:
MONDO:0005520 - rickets (disease)

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : fgf23.2, vdr, fgf23.1, slc34a3, cyp27b1, enpp1, phex, cyp2r1, clcn5, dmp1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): bone remodeling disease (is_a)