- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: PCS. Frequency: 10/10. (PMID:1975693)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:1975693)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: PCS. Frequency: 10/10. (PMID:1975693)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. (OMIM:604864)
- Knee osteoarthritis (HP:0005086). Evidence: PCS. Frequency: 10/10. (PMID:1975693)
- Heberden node (HP:0012313): Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. Evidence: PCS. Frequency: 10/10. (PMID:1975693)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 10/10. (PMID:1975693)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. (PMID:1975693)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 10/10. (PMID:1975693)
- Schmorl's node (HP:0030041): A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra. Evidence: TAS. (OMIM:604864)
- Hip osteoarthritis (HP:0008843). Evidence: PCS. Frequency: 10/10. (PMID:1975693)
- 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: PCS. (PMID:1975693)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: PCS. Frequency: 10/10. (PMID:1975693)
These phenotypes are associated with the disease mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis (OMIM:604864).