Phenotypes associated with the disease Hidrotic ectodermal dysplasia (ORPHA:189):
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:189)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Sparse axillary hair (HP:0002215): Reduced number or density of axillary hair. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Absent axillary hair (HP:0002221): Absence of axillary hair. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Sparse pubic hair (HP:0002225): Reduced number or density of pubic hair. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Absent pubic hair (HP:0002555): Absence of pubic hair. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Generalized hypotrichosis (HP:0004528): Reduced or lacking hair growth in a generalized distribution. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Brittle scalp hair (HP:0004779): Fragile, easily breakable scalp hair. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Hypopigmentation of hair (HP:0005599). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Slow-growing nails (HP:0008383): Nails whose growth is slower than normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Abnormal metacarpophalangeal joint morphology (HP:0011911): An anomaly of a metacarpophalangeal joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Cobblestone-like hyperkeratosis (HP:0031288): The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Hyperkeratotic papule (HP:0045059): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:189)