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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:0002970 | Genu varum |
| HP:0002980 | Femoral bowing |
| HP:0002982 | Tibial bowing |
| HP:0003020 | Enlargement of the wrists |
| HP:0003029 | Enlargement of the ankles |
| HP:0003106 | Subperiosteal bone resorption |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003165 | Elevated circulating parathyroid hormone level |
| HP:0004322 | Short stature |
| HP:0005042 | Irregular, rachitic-like metaphyses |
