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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:0000684 | Delayed eruption of teeth |
| HP:0000737 | Irritability |
| HP:0000867 | Secondary hyperparathyroidism |
| HP:0000886 | Deformed rib cage |
| HP:0000897 | Rachitic rosary |
| HP:0000920 | Enlargement of the costochondral junction |
| HP:0001270 | Motor delay |
| HP:0001281 | Tetany |
| HP:0001290 | Generalized hypotonia |
| HP:0001324 | Muscle weakness |
