Disease association ontology term - MONDO:0013223 - autosomal recessive spondylometaphyseal dysplasia, Megarbane type
Term summary
- ID
- MONDO:0013223
- Name
- autosomal recessive spondylometaphyseal dysplasia, Megarbane type
- Ontology or CV name
- Disease association
- Definition
- Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.
