Phenotypes associated with the disease Pilomatrixoma (ORPHA:91414):
- Pilomatrixoma (HP:0030434): Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:91414)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:91414)
- Neoplasm of head and neck (HP:0012288): A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:91414)
- Ectopic calcification (HP:0010766): Deposition of calcium salts in a tissue or location in which calcification does not normally occur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91414)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91414)
- Anti-myeloperoxidase antibody positivity (HP:0033559): The presence of autoantibodies in the blood circulation that react against myeloperoxidase. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:91414)