Search Ontology:
Human Disease
Sotos syndrome 1
- Term ID
- DOID:0112103
- Synonyms
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- 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 )
- is a type of
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