Phenotypes associated with the disease Lipedema (OMIM:614103, an entry in Online Mendelian Inheritance in Man):
- Edema (HP:0000969, a Human Phenotype Ontology term): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: IEA. (OMIM:614103)
- Lipedema (HP:0100695, a Human Phenotype Ontology term): Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise . Evidence: IEA. (OMIM:614103)
- 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: TAS. (OMIM:614103)