- Abnormality of metabolism/homeostasis (HP:0001939, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:138000)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:138000)
- Abnormality of the skin (HP:0000951, a Human Phenotype Ontology term): An abnormality of the skin. Evidence: IEA. (OMIM:138000)
These phenotypes are associated with the disease glomuvenous malformation (OMIM:138000, an entry in Online Mendelian Inheritance in Man).