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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:0000117 | Renal phosphate wasting |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000684 | Delayed eruption of teeth |
| HP:0001250 | Seizure |
| HP:0001324 | Muscle weakness |
| HP:0001363 | Craniosynostosis |
| HP:0001510 | Growth delay |
| HP:0002024 | Malabsorption |
| HP:0002652 | Skeletal dysplasia |
| HP:0002653 | Bone pain |
