- Broad femoral neck (HP:0006429): An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: IEA. (OMIM:191520)
- Arthralgia of the hip (HP:0003365): Joint pain affecting the hip. Evidence: TAS. (OMIM:191520)
- Arthralgia (HP:0002829): Joint pain. Evidence: IEA. (OMIM:191520)
- 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:191520)
- Flattened femoral head (HP:0008812): An abnormally flattened femoral head. Evidence: IEA. (OMIM:191520)
- Multiple enchondromatosis (HP:0005701). Evidence: TAS. (OMIM:191520)
These phenotypes are associated with the disease Upington disease (OMIM:191520).