RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
1-Alpha-Hydroxylase Deficiency; 1-alpha, 25-hydroxyvitamin D3 deficiency, selective; 25-Hydroxycholecalciferol-1-Hydroxylase Deficiency; PDDR IA; PDDR1A; Pseudovitamin D-Deficiency Rickets, Type IA; VDD1; VDDR1A; Vitamin D Dependency, Type 1; vitamin D hydroxylation-deficient rickets, type 1A