- Localized skin lesion (HP:0011355): A lesion of the skin that is located in a specific region rather than being generalized. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69745)
- Epidermal thickening (HP:0011368): Thickening of the epidermal layer of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69745)
- Abnormal perifollicular morphology (HP:0031285): Any structural anomaly in the areas surrounding the hair follicles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69745)
- Acantholysis (HP:0100792): The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69745)
- Abnormality of the neck (HP:0000464): An abnormality of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69745)
- Abnormal scalp morphology (HP:0001965): Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69745)
- Umbilicated nodule (HP:0025103): A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69745)
- Skin-colored papule (HP:0025512): A papule with the same color as the surrounding skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69745)
- Erythematous papule (HP:0030350): A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69745)
- Acrokeratosis (HP:0200016): Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69745)
- Oral mucosa nodule (HP:0031445): A palpable, solid lesion greater than 5mm in diameter that is located in the mucosa of the mouth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69745)
- Focal epithelial hyperplasia of oral mucosa (HP:0410340): The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69745)
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:69745)
- 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: Very rare (HP:0040284). (ORPHA:69745)
- Abnormal alveolar ridge morphology (HP:0006477): Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:69745)
- Abnormal labia majora morphology (HP:0012881): An anomaly of the outer labia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:69745)
- Vulvar neoplasm (HP:0030416): A tumor (abnormal growth of tissue) of the female external genital tract (vulva). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:69745)
- Neoplasm of the tongue (HP:0100648): A tumor (abnormal growth of tissue) of the tongue. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:69745)
- Abnormal hard palate morphology (HP:0100737). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:69745)
These phenotypes are associated with the disease Warty dyskeratoma (ORPHA:69745).