Disease association ontology term - MONDO:0010737 - spondyloepiphyseal dysplasia tarda, X-linked
Term summary
- ID
- MONDO:0010737
- Name
- spondyloepiphyseal dysplasia tarda, X-linked
- Ontology or CV name
- Disease association
- Definition
- X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.
