Phenotypes associated with the disease Isolated congenital onychodysplasia (ORPHA:79144):
- Thin nail (HP:0001816): Nail that appears thin when viewed on end. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79144)
- Bifid nail (HP:0010793): A digit with two nails, with at least some soft tissue between them. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79144)
- Absent lunula (HP:0030805): Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79144)
- Toenail dysplasia (HP:0100797): An abnormality of the development of the toenails. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79144)
- Fingernail dysplasia (HP:0100798): An abnormality of the development of the fingernails. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79144)
- Concave nail (HP:0001598): The natural longitudinal (posterodistal) convex arch is not present or is inverted. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79144)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79144)
- Abnormal finger phalanx morphology (HP:0005918): Abnormalities affecting the phalanx of finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79144)
- Onychogryphosis of toenails (HP:0008401): Thickened toenails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79144)
- Partial duplication of the distal phalanx of the 2nd finger (HP:0009951): Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79144)
- Narrow nail (HP:0011313): Decreased width of nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79144)
- Platonychia (HP:0030803): Abnormal flat nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79144)
- Malalignment of the great toenail (HP:0031282): A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79144)
- Onychogryphosis of fingernail (HP:0040036): Thickened fingernails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79144)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79144)
- 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:79144)
- Ingrown nail (HP:0012710): Excessive growth of a nail laterally into the nail fold. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79144)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79144)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79144)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79144)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79144)
- Slender distal phalanx of finger (HP:0012296): Reduced diameter of the distal phalanx of finger. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79144)