- 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:158003)
- Diabetes insipidus (HP:0000873): A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:158003)
- Abnormal lip morphology (HP:0000159): An abnormality of the lip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158003)
- Abnormality of the pharynx (HP:0000600): An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158003)
- Abnormality of the larynx (HP:0001600): An abnormality of the larynx. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158003)
- Abnormal bronchus morphology (HP:0025426): Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:158003)
These phenotypes are associated with the disease Xanthoma disseminatum (ORPHA:158003).