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Metadata
ID	DOID:0112103
Name	Sotos syndrome 1
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. https://pubmed.ncbi.nlm.nih.gov/11896389/, https://pubmed.ncbi.nlm.nih.gov/14517949/
Xrefs	MIM:117550
Synonyms	SOTOS1 [EXACT]
Parent Relationships	is_a Sotos syndrome is_a autosomal dominant disease