Disease association ontology term - MONDO:0014139 - Ehlers-Danlos syndrome, spondylodysplastic type, 2
Term summary
- ID
- MONDO:0014139
- Name
- Ehlers-Danlos syndrome, spondylodysplastic type, 2
- Ontology or CV name
- Disease association
- Definition
- Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.