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autosomal recessive hypophosphatemic rickets
Summary
- Definition
- A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
- Super Class
- autosomal recessive disease rickets
External Links
- Disease Ontology
- DOID:0050949
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22413 | Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 | |
| P35475 | Alpha-L-iduronidase | |
| Q14435 | Polypeptide N-acetylgalactosaminyltransferase 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004912 | Hypophosphatemic rickets |
| HP:0001363 | Craniosynostosis |
| HP:0012052 | Low serum calcitriol |
| HP:0002970 | Genu varum |
| HP:0100671 | Abnormal trabecular bone morphology |
| HP:0003416 | Spinal canal stenosis |
| HP:0002653 | Bone pain |
| HP:0008732 | Renal hypophosphatemia |
| HP:0000117 | Renal phosphate wasting |
| HP:0004576 | Sclerotic vertebral endplates |
