OBO ID: DOID:0080887
Term Name: vitamin D-dependent rickets type 1B Search Ontology:
Synonyms:
Definition: A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. (2)
References:
Ontology: Human Disease   (DOID:0080887)
OTHER vitamin D-dependent rickets type 1B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation deficiency 600081
ZEBRAFISH MODELS
Fish Conditions Citations
cyp2r1zf734/zf734 standard conditions Cortes et al., 2015
PHENOTYPE No data available

CITATIONS (1)