Search Ontology:
Human Disease
vitamin D-dependent rickets type 1A
- Term ID
- DOID:0080886
- Synonyms
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- 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
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- MIM:264700
- ORDO:289157
- Ontology
- Human Disease ( DOID:0080886 )
- is a type of
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Genes Involved
Zebrafish Models