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Summary Literature (0)
DOID:0112103 - Sotos syndrome 1


Disease Ontology 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.

Synonyms: SOTOS1,

Xenbase Genes : nsd1



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Sotos syndrome (is_a), autosomal dominant disease (is_a)