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MIRAGE
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:0100036 | Pseudo-fractures |
| HP:0100511 | Abnormality of vitamin D metabolism |
| HP:0100559 | Lower limb asymmetry |
| HP:0100671 | Abnormal trabecular bone morphology |
| HP:0100686 | Enthesitis |
| HP:0100781 | Abnormal sacroiliac joint morphology |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000670 | Carious teeth |
| HP:0000685 | Hypoplasia of teeth |
| HP:0001642 | Pulmonic stenosis |
