Phenotypes associated with the disease Scheuermann disease (OMIM:181440):
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: IEA. (OMIM:181440)
- Morbus Scheuermann (HP:0010891): A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays). Evidence: IEA. (OMIM:181440)
- Osteochondrosis (HP:0040188): Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification. Evidence: IEA. (OMIM:181440)
- 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:181440)