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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
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O55188 | Dentin matrix acidic phosphoprotein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004576 | Sclerotic vertebral endplates |
| HP:0004912 | Hypophosphatemic rickets |
| HP:0005096 | Distal femoral bowing |
| HP:0005764 | Polyarticular arthritis |
| HP:0006463 | Rickets of the lower limbs |
| HP:0008732 | Renal hypophosphatemia |
| HP:0010639 | Elevated alkaline phosphatase of bone origin |
| HP:0011001 | Increased bone mineral density |
| HP:0011036 | Abnormality of renal excretion |
| HP:0012052 | Low serum calcitriol |
