Disease association ontology term - MONDO:0009593 - spondylometaphyseal dysplasia, Sedaghatian type
Term summary
- ID
- MONDO:0009593
- Name
- spondylometaphyseal dysplasia, Sedaghatian type
- Ontology or CV name
- Disease association
- Definition
- Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
