OMIA:001431 : Vitamin D-deficiency rickets, type II

Categories: Skeleton phene (incl. short stature & teeth)

Possible human homologues (MIM numbers): 277440 (trait) , 601769 (gene)

Links to relevant human diseases in MONDO:

Cross-species summary: Vitamin D dependent rickets type 2A (VDDR-2A), also called hereditary vitamin-D resistant rickets (HVDRR), is caused in many species by mutations in the Vitamin D Receptor (VDR) gene.

Species in which this phene is found:
dog (Canis lupus familiaris)
domestic cat (Felis catus)

Edit History

  • Created by Frank Nicholas on 18 Jul 2006
  • Changed by Imke Tammen2 on 06 Aug 2021
  • Changed by Imke Tammen2 on 22 Oct 2022
  • Changed by Imke Tammen2 on 01 Jul 2023