Sotos syndrome

Term ID

DOID:0112103

Synonyms

• SOTOS
• Sotos syndrome 1
• SOTOS1

Definition

A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life and 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

• GARD:10091
• ICD10CM:Q87.3
• MESH:D058495
• MIM:117550
• NCI:C75019
• ORDO:821
• SNOMEDCT_US_2025_09_01:75968004
• UMLS_CUI:C0175695

Ontology

Human Disease   ( DOID:0112103 )