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MIRAGE
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
- ORDO
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:0000893 | Bulging of the costochondral junction |
| HP:0004492 | Widely patent fontanelles and sutures |
| HP:0010502 | Fibular bowing |
| HP:0002979 | Bowing of the legs |
