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vitamin D-dependent rickets type 1B
Summary
- Definition
- 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.
- Super Class
- autosomal recessive disease vitamin D-dependent rickets
External Links
- Disease Ontology
- DOID:0080887
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002355 | Difficulty walking |
| HP:0002653 | Bone pain |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0002663 | Delayed epiphyseal ossification |
| HP:0002748 | Rickets |
| HP:0002749 | Osteomalacia |
| HP:0002752 | Sparse bone trabeculae |
| HP:0002753 | Thin bony cortex |
| HP:0002901 | Hypocalcemia |
| HP:0002909 | Generalized aminoaciduria |
