Disease association ontology term - MONDO:0010217 - de Sanctis-Cacchione syndrome
Term summary
- ID
- MONDO:0010217
- Name
- de Sanctis-Cacchione syndrome
- Ontology or CV name
- Disease association
- Definition
- A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
