Vitamin D-Dependent Rickets Type 1A
Disease ID: disease_node_15716
Connections displayed (default: 10).
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| Dbxref | MIM:264700, ORDO:289157 |
|---|---|
| Subclassof | DOID_0080883, DOID_0050737 |
| Data Source | DOID |
| Doid Label | vitamin D-dependent rickets type 1A |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15716 |
| Doid Id | DOID_0080886 |
| Label | Vitamin D-Dependent Rickets Type 1A |
- Outgoing r'ship
SUBCLASS_OFto/from Vitamin D-Dependent Rickets(ID:disease_node_15714) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)