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Human Disease and Mouse Model Detail
Human Disease Vitamin D Hydroxylation-Deficient Rickets, Type 1B; VDDR1B
OMIM ID: 600081
Human Phenotype Ontology associations
Synonyms 25-hydroxyvitamin D3 Deficiency, Selective; Pseudovitamin D3 Deficiency Rickets Due to 25-Hydroxylase Deficiency; Vitamin D-Dependent Rickets; Vitamin D-Dependent Rickets, Type 1b
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     CYP2R1* Cyp2r1   HomoloGene and HGNC

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory