Disease association ontology term - MONDO:0010080 - familial infantile bilateral striatal necrosis
Term summary
- ID
- MONDO:0010080
- Name
- familial infantile bilateral striatal necrosis
- Ontology or CV name
- Disease association
- Definition
- The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
