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- NCIT_C75100 IAO_0000115 "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." @default.
- NCIT_C75100 NCIT_NHC0 "C75100" @default.
- NCIT_C75100 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C75100 NCIT_P108 "CHARGE Syndrome" @default.
- NCIT_C75100 NCIT_P207 "C4225521" @default.
- NCIT_C75100 NCIT_P322 "ACC/AHA" @default.
- NCIT_C75100 NCIT_P322 "Cellosaurus" @default.
- NCIT_C75100 NCIT_P322 "NICHD" @default.
- NCIT_C75100 NCIT_P325 "A genetic syndrome characterized by autosomal dominant 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 delay, genital, and ear abnormalities." @default.
- NCIT_C75100 NCIT_P325 "An autosomal dominant syndrome caused by mutation(s) in the CHD7 gene, encoding chromodomain-helicase-DNA-binding protein 7, and characterized by coloboma, cardiac anomalies, choanal atresia, growth and developmental delay, hypogonadotropic hypogonadism, and ear anomalies." @default.
- NCIT_C75100 NCIT_P366 "CHARGE_Syndrome" @default.
- NCIT_C75100 NCIT_R176 NCIT_C16612 @default.
- NCIT_C75100 NCIT_R176 NCIT_C21281 @default.
- NCIT_C75100 NCIT_R176 NCIT_C25804 @default.
- NCIT_C75100 NCIT_R176 NCIT_C26057 @default.
- NCIT_C75100 NCIT_R176 NCIT_C75309 @default.
- NCIT_C75100 normalizedInformationContent "100" @default.
- NCIT_C75100 referenceCount "1" @default.
- NCIT_C75100 hasExactSynonym "CHARGE Syndrome" @default.
- NCIT_C75100 hasExactSynonym "CHARGE association" @default.
- NCIT_C75100 hasExactSynonym "Coloboma, Heart Defects, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Anomalies Association" @default.
- NCIT_C75100 hasExactSynonym "Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association" @default.
- NCIT_C75100 inSubset NCIT_C118467 @default.
- NCIT_C75100 inSubset NCIT_C165258 @default.
- NCIT_C75100 inSubset NCIT_C167409 @default.
- NCIT_C75100 inSubset NCIT_C192842 @default.
- NCIT_C75100 inSubset NCIT_C90259 @default.
- NCIT_C75100 inSubset NCIT_C99147 @default.
- NCIT_C75100 type Class @default.
- NCIT_C75100 isDefinedBy ncit.owl @default.
- NCIT_C75100 label "CHARGE Syndrome" @default.
- NCIT_C75100 subClassOf B7bbae52e02cc74b89891db652ee39626 @default.
- NCIT_C75100 subClassOf Bd4af847bbc86d7183ddc2e8c12741af5 @default.
- NCIT_C75100 subClassOf NCIT_C28193 @default.
- NCIT_C75100 subClassOf NCIT_C2991 @default.
- NCIT_C75100 subClassOf NCIT_C4873 @default.
- NCIT_C75100 subClassOf NCIT_C53529 @default.
- NCIT_C75100 subClassOf NCIT_C53543 @default.
- NCIT_C75100 subClassOf NCIT_C53547 @default.
- NCIT_C75100 subClassOf NCIT_C7057 @default.
- NCIT_C75100 subClassOf NCIT_C75100 @default.