- Subungual hyperkeratosis (HP:0008392): A thickening of the stratum corneum in the region beneath the nails. Evidence: TAS. (OMIM:300918)
- Alopecia totalis (HP:0007418): Loss of all scalp hair. Evidence: TAS. (OMIM:300918)
- Parakeratosis (HP:0001036): Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. Evidence: TAS. (OMIM:300918)
- Posterior blepharitis (HP:0025610): A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia. Evidence: IEA. (OMIM:300918)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: TAS. (OMIM:300918)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: TAS. (OMIM:300918)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: TAS. (OMIM:300918)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: IEA. (OMIM:300918)
- Blepharitis (HP:0000498): Inflammation of the eyelids. Evidence: IEA. (OMIM:300918)
- 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. (OMIM:300918)
These phenotypes are associated with the disease Olmsted syndrome, X-linked (OMIM:300918).