- Abdominal aortic aneurysm (HP:0005112): An abnormal localized widening (dilatation) of the abdominal aorta. Evidence: PCS. Onset: Adult onset (HP:0003581). (PMID:7613891)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:100070)
- Non-Mendelian inheritance (HP:0001426): A mode of inheritance that depends on genetic determinants in more than one gene. Evidence: TAS. (OMIM:100070)
- 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: TAS. (OMIM:100070)
These phenotypes are associated with the disease aortic aneurysm, familial abdominal, 1 (OMIM:100070).