Vitamin D-Dependent Rickets Type 1B
Disease ID: disease_node_15715
Connections displayed (default: 10).
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| Dbxref | MIM:600081, ORDO:289157 |
|---|---|
| Subclassof | DOID_0080883, DOID_0050737 |
| Data Source | DOID |
| Doid Label | vitamin D-dependent rickets type 1B |
| Doid Description | A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15715 |
| Doid Id | DOID_0080887 |
| Label | Vitamin D-Dependent Rickets Type 1B |
- 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)