About: Cornelia De Lange Syndrome     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • Cornelia De Lange Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Cornelia De Lange Syndrome
UMLS_CUI
  • C0270972
Contributing_Source
  • NICHD
Legacy_Concept_Name
  • Cornelia_De_Lange_Syndrome
FULL_SYN
  • Cornelia De Lange SyndromePTNCI
  • De Lange SyndromeSYNCI
  • De Lange SyndromePTNICHD
DEFINITION
  • A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.NCI
code
  • C75016
is rdfs:subClassOf of
is someValuesFrom of
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