OMIA:002221 : Vitamin D-deficiency rickets, type IB

Categories: Homeostasis / metabolism phene

Possible human homologues (MIM numbers): 600081 (trait) , 608713 (gene)

Links to relevant human diseases in MONDO:

Cross-species summary: Vitamin D dependent rickets type 1B is caused by mutations in the CYP2R1 gene leading to failure of vitamin D to be converted to 25(OH)D.

Species in which this phene is found:
domestic cat (Felis catus)

Edit History


  • Created by Frank Nicholas on 10 Dec 2019
  • Changed by Imke Tammen2 on 06 Aug 2021
  • Changed by Imke Tammen2 on 01 Sep 2021
  • Changed by Imke Tammen2 on 24 Jan 2023