Search Ontology: 
        
        Human Disease
            Sotos syndrome 1
- Term ID
- DOID:0112103
- Synonyms
- 
    
        
        - SOTOS1
 
- Definition
- A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. (2)
- References
- Ontology
- Human Disease ( DOID:0112103 )
                
                    
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