- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:183840)
- Abnormal joint morphology (HP:0001367): An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. Evidence: IEA. (OMIM:183840)
- 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:183840)
These phenotypes are associated with the disease spondyloarthropathy, susceptibility to, 2 (OMIM:183840).