Phenotypes associated with the disease Osteochondrosis of the tarsal bone (ORPHA:563991):
- Tarsal stippling (HP:0008131): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563991)
- Flattening of the talar dome (HP:0008144). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563991)
- Abnormal tarsal ossification (HP:0008369): An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563991)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563991)
- Foot pain (HP:0025238): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563991)
- Ankle pain (HP:0030840): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563991)
- Tarsal sclerosis (HP:0031051): An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563991)
- Antalgic gait (HP:0031955): To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563991)
- Chondritis (HP:0100662): Inflammation of cartilage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563991)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:563991)
- Avascular necrosis (HP:0010885): A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:563991)
- Osteochondritis dissecans (HP:0010886): A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:563991)
- Juvenile aseptic necrosis (HP:0100323): Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:563991)