Phenotypes associated with the disease Anonychia with flexural pigmentation (ORPHA:69125):
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)
- Hyperkeratosis (HP:0000962): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)
- Alopecia of scalp (HP:0002293). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)
- Abnormal nipple morphology (HP:0004404): An abnormality of the nipple. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)
- Axillary and groin hyperpigmentation and hypopigmentation (HP:0007471). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)
- Follicular hyperkeratosis (HP:0007502): A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)
- Macular telangiectasia (HP:0030503): Localized irregular dilatation of small tortuous intraretinal blood vessels in the macular area. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)
- Abnormal skin morphology of the palm (HP:0040211): An abnormality of the skin of the palm, that is, the skin of the front of the hand. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)
- Abnormality of the plantar skin of foot (HP:0100872): An abnormality of the plantar part of foot, that is of the soles of the feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69125)