- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:66661)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:66661)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:66661)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:66661)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:66661)
- 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: Very frequent (HP:0040281). (ORPHA:66661)
- Mastocytosis (HP:0100495): The presence of an increased number of mast cells and CD34+ mast cell precursors in the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66661)
- Hypoplasia of the ear cartilage (HP:0100720). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:66661)
- Mediastinal lymphadenopathy (HP:0100721): Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:66661)
These phenotypes are associated with the disease Mast cell sarcoma (ORPHA:66661).