- Unicameral bone cyst (HP:0012064): A benign fluid filled simple cyst of bone filled with serous fluid. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:83468)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83468)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:83468)
- Abnormal humeral diaphysis morphology (HP:0003926): An anomaly of the humeral diaphysis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83468)
- Abnormal proximal femoral metaphysis morphology (HP:0006431): An anomaly of the metaphysis of the proximal femur (close to the hip). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83468)
- Abnormality of the medullary cavity of the long bones (HP:0100253): An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:83468)
- Abnormal tibia morphology (HP:0002992): Abnormality of the tibia (shinbone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83468)
- Prominent calcaneus (HP:0012428): Protruding heel bone, or calcaneus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:83468)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83468)
- Abnormal spinal cord morphology (HP:0002143): A structural abnormality of the spinal cord (myelon). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83468)
- Abnormal parietal bone morphology (HP:0002696): Any abnormality of the parietal bone of the skull. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83468)
- Abnormal ilium morphology (HP:0002867): An abnormality of the ilium, the largest and uppermost bone of the pelvis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83468)
- Abnormal pubic bone morphology (HP:0003172): An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83468)
- 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: Very rare (HP:0040284). (ORPHA:83468)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83468)
- Lytic defects of the radius (HP:0003979). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83468)
- Muscular edema (HP:0100748). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:83468)
These phenotypes are associated with the disease Solitary bone cyst (ORPHA:83468).