Disease association ontology term - MONDO:0010075 - spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Term summary
- ID
- MONDO:0010075
- Name
- spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
- Ontology or CV name
- Disease association
- Definition
- Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.
