Search Ontology:
Human Disease
vitamin D-dependent rickets type 2A
- Term ID
- DOID:0080884
- Synonyms
-
- Definition
- A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. (2)
- References
-
- MIM:277440
- ORDO:93160
- Ontology
- Human Disease ( DOID:0080884 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models