- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: PCS. (PMID:12362049)
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: TAS. (OMIM:174810)
- Premature loss of teeth (HP:0006480): Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. Evidence: TAS. (OMIM:174810)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. (OMIM:174810)
- Fragile teeth (HP:0025124): A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma. Evidence: PCS. (PMID:12362049)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: PCS. (PMID:12362049)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: PCS. Frequency: 16/20. (PMID:12362049)
- Hydroxyprolinuria (HP:0003080): An increased concentration of 4-hydroxy-L-proline in the urine. Evidence: TAS. (OMIM:174810)
- Pathologic fracture (HP:0002756): A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. Evidence: TAS. (OMIM:174810)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:10615125)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: PCS. Frequency: 12/20. (PMID:12362049)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: TAS. (OMIM:174810)
These phenotypes are associated with the disease familial expansile osteolysis (OMIM:174810).