Phenotypes associated with the disease epiphyseal dysplasia, multiple, 6 (OMIM:614135):
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: PCS. (PMID:11565064)
- Intervertebral disk calcification (HP:0005645): The presence of abnormal calcium deposition of the intervertebral disk. Evidence: PCS. Frequency: 1/1. (PMID:11565064)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:11565064)
- Arthralgia of the hip (HP:0003365): Joint pain affecting the hip. Evidence: TAS. (OMIM:614135)
- Irregular distal femoral epiphysis (HP:0006407): Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. Evidence: PCS. (PMID:11565064)
- Flat capital femoral epiphysis (HP:0003370): An abnormal flattening of the proximal epiphysis of the femur. Evidence: PCS. (PMID:11565064)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: IEA. Frequency: 2/2. (PMID:11565064)
- Small epiphyses (HP:0010585): Reduction in the size or volume of epiphyses. Evidence: PCS. (PMID:11565064)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. (PMID:11565064)
- Irregular epiphyses (HP:0010582): An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. Evidence: PCS. (PMID:11565064)
- Abnormality of the knee (HP:0002815): An abnormality of the knee joint or surrounding structures. Evidence: TAS. (OMIM:614135)
- Flat distal femoral epiphysis (HP:0006398): An abnormal flattening of the distal epiphysis of femur. Evidence: PCS. (PMID:11565064)
- 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: PCS. Frequency: 1/2. (PMID:11565064)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: PCS. Frequency: 2/2. Onset: Juvenile onset (HP:0003621). (PMID:11565064)
- 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:11565064)
- Multiple epiphyseal dysplasia (HP:0002654). Evidence: PCS. Frequency: 2/2. (PMID:11565064)