- Abnormality of the respiratory system (HP:0002086): An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464329)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464329)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464329)
- Abnormal skeletal morphology (HP:0011842): An abnormality of the form, structure, or size of the skeletal system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464329)
- Hypofibrinogenemia (HP:0011900): Decreased concentration of fibrinogen in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464329)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464329)
- Abnormal spleen morphology (HP:0025408): Any anomaly of the structure of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464329)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Abnormality of the neck (HP:0000464): An abnormality of the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Abnormal scapula morphology (HP:0000782): Any abnormality of the scapula, also known as the shoulder blade. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Pancreatic cysts (HP:0001737): A cyst of the pancreas that possess a lining of mucous epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Recurrent long bone fractures (HP:0003084): An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Abnormal ischium morphology (HP:0003174): An anomaly of the ischium, which forms the lower and back part of the hip bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- 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: Occasional (HP:0040283). (ORPHA:464329)
- Abnormality of the cervical spine (HP:0003319): Any abnormality of the cervical vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Abnormal sacrum morphology (HP:0005107): An abnormality of the sacral bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Multiple renal cysts (HP:0005562): The presence of many cysts in the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Subconjunctival hemorrhage (HP:0011896): Bleeding beneath the mucous membrane that lines the inner surface of the eyelid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Abnormal humerus morphology (HP:0031095): Any structural anomaly of the structure of the humerus (i.e., upper arm bone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Ecchymosis (HP:0031364): A purpuric lesion that is larger than 1 cm in diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Abnormal pelvis bone morphology (HP:0040163). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Epidural hemorrhage (HP:0100310): Hemorrhage occurring between the dura mater and the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Metrorrhagia (HP:0100608): Bleeding at irregular intervals. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Abnormal thoracic spine morphology (HP:0100711): An abnormality of the thoracic vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:464329)
- 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:464329)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464329)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464329)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464329)
- Abnormal skull base morphology (HP:0002693): An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464329)
- Papilloma (HP:0012740): A tumor of the skin or mucous membrane with finger-like projections. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:464329)
- Abnormal lung morphology (HP:0002088): Any structural anomaly of the lung. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:464329)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:464329)
- Abnormal mediastinum morphology (HP:0045026): Any structural anomaly of the central compartment of the thoracic cavity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:464329)
- Abnormality of the lymphatic system (HP:0100763): An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:464329)
- Abnormal lymphatic vessel morphology (HP:0100766): A structural anomaly of the vessel that contains or conveys lymph fluid. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:464329)
- Abnormal thorax morphology (HP:0000765): Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464329)
- Pericardial effusion (HP:0001698): Accumulation of fluid within the pericardium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464329)
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:464329)
These phenotypes are associated with the disease Kaposiform lymphangiomatosis (ORPHA:464329).