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vitamin D-dependent rickets type 1A
Summary
- Definition
- 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.
- Super Class
- autosomal recessive disease vitamin D-dependent rickets
External Links
- Disease Ontology
- DOID:0080886
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005469 | Flat occiput |
| HP:0006297 | Enamel hypoplasia |
| HP:0008897 | Postnatal growth retardation |
| HP:0010537 | Wide cranial sutures |
| HP:0010639 | Elevated alkaline phosphatase of bone origin |
| HP:0012052 | Low serum calcitriol |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000893 | Bulging of the costochondral junction |
| HP:0001252 | Hypotonia |
| HP:0001510 | Growth delay |
