Phenotypes associated with the disease Darier disease (OMIM:124200):
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:124200)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: IEA. (OMIM:124200)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:124200)
- Acrokeratosis (HP:0200016): Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. Evidence: IEA. (OMIM:124200)
- Palmar pits (HP:0010610). Evidence: IEA. (OMIM:124200)
- Enlargement of parotid gland (HP:0011801): Increased size of the parotid gland. Evidence: TAS. (OMIM:124200)
- Plantar pits (HP:0010612): The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. Evidence: IEA. (OMIM:124200)
- Acantholysis (HP:0100792): The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. Evidence: IEA. (OMIM:124200)
- Schizophrenia (HP:0100753): A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences. Evidence: TAS. (OMIM:124200)
- Ridged nail (HP:0001807): Longitudinal, linear prominences in the nail plate. Evidence: IEA. (OMIM:124200)
- Subungual hyperkeratotic fragments (HP:0008410). Evidence: IEA. (OMIM:124200)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. (OMIM:124200)
- Bipolar affective disorder (HP:0007302): Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods. Evidence: IEA. (OMIM:124200)
- Longitudinal erythronychia (HP:6001074): A longitudinal red band extending from the proximal nail fold or lunula to the distal nail plate. Evidence: TAS. (OMIM:124200)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:124200)