- 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: Very frequent (HP:0040281). (ORPHA:793)
- Abnormality of the vertebral column (HP:0000925): Any abnormality of the vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:793)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:793)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:793)
- Acne (HP:0001061): A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:793)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:793)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:793)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:793)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:793)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:793)
- Inflammation of the large intestine (HP:0002037): Inflammation, or an inflammatory state in the large intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:793)
- Steatorrhea (HP:0002570): Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:793)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:793)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:793)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:793)
- 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:793)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:793)
- Psoriasiform dermatitis (HP:0003765): A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:793)
- 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:793)
- Craniofacial osteosclerosis (HP:0005464): Abnormally increased density of craniofacial bone tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:793)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:793)
- Neoplasm of the skeletal system (HP:0010622): A tumor (abnormal growth of tissue) of the skeleton. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:793)
- Enthesitis (HP:0100686). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:793)
- Synovitis (HP:0100769). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:793)
- Abnormal sacroiliac joint morphology (HP:0100781): An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:793)
- Palmoplantar pustulosis (HP:0100847): A chronic, relapsing, pustular eruption that is localized to the palms and soles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:793)
- Pustule (HP:0200039): A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:793)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:793)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:793)
- Hyperostosis (HP:0100774): Excessive growth or abnormal thickening of bone tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:793)
These phenotypes are associated with the disease SAPHO syndrome (ORPHA:793).