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Sotos syndrome

Disease Summary
Associated Targets (4)
Tbio

3

Tchem

1


GARD Rare
Mondo Description Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.
Disease Ontology Description An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
Mondo Term and Equivalent IDs
MONDO:0019349:  Sotos syndrome
GARD:0010091: 
MESH:D058495: 
NCIT:C75019: 
OMIMPS:117550: 
Orphanet:821: 
UMLS:C0175695: 
UMLS:CN239475: