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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:0001508 | Failure to thrive |
| HP:0001538 | Protuberant abdomen |
| HP:0001638 | Cardiomyopathy |
| HP:0001744 | Splenomegaly |
| HP:0001931 | Hypochromic anemia |
| HP:0001974 | Leukocytosis |
| HP:0002007 | Frontal bossing |
| HP:0002148 | Hypophosphatemia |
| HP:0002199 | Hypocalcemic seizures |
| HP:0002240 | Hepatomegaly |
