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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003020 | Enlargement of the wrists |
| HP:0100511 | Abnormality of vitamin D metabolism |
| HP:0002024 | Malabsorption |
| HP:0005764 | Polyarticular arthritis |
| HP:0001250 | Seizure |
| HP:0011001 | Increased bone mineral density |
| HP:0002812 | Coxa vara |
| HP:0100781 | Abnormal sacroiliac joint morphology |
| HP:0004322 | Short stature |
| HP:0000407 | Sensorineural hearing impairment |
