- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: TAS. (OMIM:154800)
- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: IEA. (OMIM:154800)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: IEA. (OMIM:154800)
- Telangiectasia macularis eruptiva perstans (HP:0007583). Evidence: IEA. (OMIM:154800)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: IEA. (OMIM:154800)
- 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:154800)
- Cutaneous mastocytosis (HP:0200151): Multifocal dense infiltrates of mast cells in cutaneous tissue. Evidence: TAS. (OMIM:154800)
These phenotypes are associated with the disease cutaneous mastocytosis (OMIM:154800).