Phenotypes associated with the disease Ollier disease (ORPHA:296):
- Abnormal metaphysis morphology (HP:0000944): An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:296)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:296)
- Abnormal cartilage morphology (HP:0002763): Any morphological abnormality of cartilage. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:296)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:296)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:296)
- Multiple enchondromatosis (HP:0005701). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:296)
- Visceral angiomatosis (HP:0100761). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:296)
- 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: Frequent (HP:0040282). (ORPHA:296)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:296)
- 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:296)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- 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: Occasional (HP:0040283). (ORPHA:296)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- 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: Occasional (HP:0040283). (ORPHA:296)
- Madelung deformity (HP:0003067): An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- Venous thrombosis (HP:0004936): Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- Chondrosarcoma (HP:0006765): A slowly growing malignant neoplasm derived from cartilage cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- Sarcoma (HP:0100242): A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- Upper limb asymmetry (HP:0100560): Difference in length or size between the right and left arm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- Lymphangioma (HP:0100764): Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:296)