Disease association ontology term - MONDO:0009107 - diastrophic dysplasia
Term summary
- ID
- MONDO:0009107
- Name
- diastrophic dysplasia
- Ontology or CV name
- Disease association
- Definition
- Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).
