- Abnormality of connective tissue (HP:0003549): Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217059)
- Broad finger (HP:0001500): Increased width of a non-thumb digit of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217059)
- Hyperconvex nail (HP:0001795): When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217059)
- Onychogryphosis (HP:0001805): Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217059)
- Broad nail (HP:0001821): Increased width of nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217059)
- Broad toe (HP:0001837): Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217059)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217059)
- Broad fingertip (HP:0011300): Increased width of the distal segment of a finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217059)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217059)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217059)
- Clubbing of toes (HP:0100760): Terminal broadening of the toes (distal phalanges of the toes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217059)
- Dystrophic fingernails (HP:0008391): The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:217059)
- Unusual fungal nail infection (HP:0012203): Increased susceptibility to fungal infection of the nail apparatus (onychomycosis), as manifested by recurrent or severe infection of the nail plate, nail bed, or nail matrix caused by fungal organisms. Causative agents include dermatophytes (Trichophyton species) and Candida species. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:217059)
These phenotypes are associated with the disease Isolated nail clubbing (ORPHA:217059).
The following phenotypes are NOT associated with this disease:
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: TAS. (ORPHA:217059)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. (ORPHA:217059)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. (ORPHA:217059)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. (ORPHA:217059)