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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:0012053 | Decreased circulating calcifediol concentration |
| HP:0002757 | Recurrent fractures |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000893 | Bulging of the costochondral junction |
| HP:0003013 | Bulging epiphyses |
| HP:0011463 | Childhood onset |
| HP:0001510 | Growth delay |
| HP:0003025 | Metaphyseal irregularity |
| HP:0001252 | Hypotonia |
| HP:0003698 | Difficulty standing |
