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autosomal dominant hypophosphatemic rickets
Summary
- Definition
- A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.
- Super Class
- autosomal dominant disease rickets
External Links
- Disease Ontology
- DOID:0050948
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22413 | Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 | |
| Q86Z14 | Beta-klotho | |
| Q9NY28 | Probable polypeptide N-acetylgalactosaminyltransferase 8 |
