- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: TAS. (OMIM:601700)
- Yellow papule (HP:0025507): A papule with yellow color. Evidence: TAS. (OMIM:601700)
- Sebaceous hyperplasia (HP:0032227): A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. Evidence: TAS. (OMIM:601700)
- 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:601700)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: IEA. (OMIM:601700)
These phenotypes are associated with the disease sebaceous gland hyperplasia, familial presenile (OMIM:601700).