- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93311)
- Delayed proximal femoral epiphyseal ossification (HP:0008828): Developmental delay of ossification of the proximal epiphysis of the femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93311)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93311)
- Abnormal hip joint morphology (HP:0001384): An abnormality of the hip joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93311)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93311)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93311)
- Premature osteoarthritis (HP:0003088). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93311)
- Mild short stature (HP:0003502): A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93311)
- Abnormal upper limb epiphysis morphology (HP:0003839). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93311)
- Abnormality of the epiphyses of the feet (HP:0010631): Any abnormality of the epiphyses of the feet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93311)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:93311)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93311)
- Abnormal acetabulum morphology (HP:0003170): An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93311)
- Decreased hip abduction (HP:0003184): Reduced ability to move the femur outward to the side. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93311)
- Arthralgia of the hip (HP:0003365): Joint pain affecting the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93311)
- Osteoarthritis of the small joints of the hand (HP:0004268). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93311)
- Avascular necrosis of the capital femoral epiphysis (HP:0005743): Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93311)
- Multiple small vertebral fractures (HP:0005877). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93311)
- Intervertebral disk degeneration (HP:0008419): The presence of degenerative changes of intervertebral disk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93311)
- Limited hip movement (HP:0008800): A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93311)
- Ankle pain (HP:0030840): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93311)
- 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:93311)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:93311)
These phenotypes are associated with the disease Multiple epiphyseal dysplasia type 5 (ORPHA:93311).