Search Ontology:
Human Disease

vitamin D-dependent rickets type 1A

Term ID
DOID:0080886
Synonyms
Definition
A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. (2)
References
Ontology
Human Disease   ( DOID:0080886 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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