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calvarial doughnut lesions with bone fragility
Summary
- Definition
- An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.
- Super Class
- osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0080721
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002650 | Scoliosis |
| HP:0000926 | Platyspondyly |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0000410 | Mixed hearing impairment |
| HP:0002757 | Recurrent fractures |
| HP:0000939 | Osteoporosis |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001270 | Motor delay |
| HP:0002980 | Femoral bowing |
| HP:0000670 | Carious teeth |
