Phenotypes associated with the disease nevus flammeus of nape of neck (OMIM:163100):
- Nevus flammeus nuchae (HP:0007616): Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. Evidence: IEA. (OMIM:163100)
- 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:163100)