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AttributesValues
rdf:type
rdfs:label
  • CHARGE Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • CHARGE Syndrome
UMLS_CUI
  • C0265354
Contributing_Source
  • NICHD
Legacy_Concept_Name
  • CHARGE_Syndrome
FULL_SYN
  • Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) AssociationPTNICHD
  • CHARGE SyndromePTNCI
DEFINITION
  • A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities.NCI
code
  • C75100
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