About: Sotos Syndrome

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Sotos Syndrome
rdfs:subClassOf	Syndrome Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Genetic Disorder Developmental Disabilities
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Sotos Syndrome
UMLS_CUI	C0175695
Contributing_Source	NICHD
Legacy_Concept_Name	Sotos_Syndrome
FULL_SYN	Sotos SyndromePTNCI Sotos' SyndromePTNICHD
DEFINITION	A rare genetic syndrome caused by mutations in the NSD1 gene. It is characterized by excessive physical growth early in life, mild mental retardation, and delayed cognitive and social development. Children affected by this syndrome are tall with larger than normal heads.NCI
code	C75019
is someValuesFrom of	nodeID://b680191 nodeID://b695932

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