Phenotypes associated with the disease Osteomesopyknosis (ORPHA:2777):
- Increased bone mineral density (HP:0011001): An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2777)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2777)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2777)
- Abnormal vertebral body morphology (HP:0003312): Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2777)
- Sclerotic vertebral body (HP:0100861): Increase in bone density of the vertebral body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2777)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2777)
- Abnormal cortical bone morphology (HP:0003103): An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2777)