Phenotypes associated with the disease Monilethrix (ORPHA:573):
- Abnormal eyelash morphology (HP:0000499): An abnormality of the eyelashes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:573)
- Abnormal eyebrow morphology (HP:0000534): An abnormality of the eyebrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:573)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:573)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:573)
- Slow-growing hair (HP:0002217): Hair whose growth is slower than normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:573)
- Patchy alopecia (HP:0002232): Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:573)
- Brittle hair (HP:0002299): Fragile, easily breakable hair, i.e., with reduced tensile strength. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:573)
- 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:573)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:573)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:573)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:573)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:573)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:573)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:573)