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