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

AttributesValues
rdf:type
rdfs:label
  • Sotos Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
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
is sameAs of
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