Phenotypes associated with the disease Pseudoxanthomatous diffuse cutaneous mastocytosis (ORPHA:280794):
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280794)
- Cutaneous mastocytosis (HP:0200151): Multifocal dense infiltrates of mast cells in cutaneous tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280794)