Search Ontology:
Human Disease

vitamin D-dependent rickets type 1B

Term ID
DOID:0080887
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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