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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:0001324 | Muscle weakness |
| HP:0011036 | Abnormality of renal excretion |
| HP:0002814 | Abnormality of the lower limb |
| HP:0100559 | Lower limb asymmetry |
| HP:0003109 | Hyperphosphaturia |
| HP:0002652 | Skeletal dysplasia |
| HP:0006463 | Rickets of the lower limbs |
| HP:0100686 | Enthesitis |
| HP:0002982 | Tibial bowing |
| HP:0100036 | Pseudo-fractures |
