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- NCIT_C84522 IAO_0000115 "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." @default.
- NCIT_C84522 NCIT_NHC0 "C84522" @default.
- NCIT_C84522 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84522 NCIT_P108 "Deletion 18q Syndrome" @default.
- NCIT_C84522 NCIT_P207 "C0432443" @default.
- NCIT_C84522 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84522 NCIT_P322 "NICHD" @default.
- NCIT_C84522 NCIT_P325 "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts." @default.
- NCIT_C84522 NCIT_R106 NCIT_C2950 @default.
- NCIT_C84522 NCIT_R106 NCIT_C36315 @default.
- NCIT_C84522 NCIT_R106 NCIT_C36496 @default.
- NCIT_C84522 NCIT_R106 NCIT_C3910 @default.
- NCIT_C84522 NCIT_R106 NCIT_C6825 @default.
- NCIT_C84522 NCIT_R174 NCIT_C12219 @default.
- NCIT_C84522 NCIT_R174 NCIT_C13202 @default.
- NCIT_C84522 NCIT_R174 NCIT_C13203 @default.
- NCIT_C84522 NCIT_R174 NCIT_C13213 @default.
- NCIT_C84522 NCIT_R174 NCIT_C13404 @default.
- NCIT_C84522 NCIT_R174 NCIT_C14134 @default.
- NCIT_C84522 NCIT_R174 NCIT_C21599 @default.
- NCIT_C84522 normalizedInformationContent "100" @default.
- NCIT_C84522 referenceCount "1" @default.
- NCIT_C84522 hasExactSynonym "18Q Syndrome" @default.
- NCIT_C84522 hasExactSynonym "18q Deletion Syndrome" @default.
- NCIT_C84522 hasExactSynonym "18q-Syndrome" @default.
- NCIT_C84522 hasExactSynonym "Chromosome 18q Deletion Syndrome" @default.
- NCIT_C84522 hasExactSynonym "Deletion 18q Syndrome" @default.
- NCIT_C84522 inSubset NCIT_C118467 @default.
- NCIT_C84522 inSubset NCIT_C165258 @default.
- NCIT_C84522 inSubset NCIT_C192842 @default.
- NCIT_C84522 inSubset NCIT_C90259 @default.
- NCIT_C84522 type Class @default.
- NCIT_C84522 isDefinedBy ncit.owl @default.
- NCIT_C84522 label "Deletion 18q Syndrome" @default.
- NCIT_C84522 subClassOf B0f6c8d86da72b0a24a0366f00d457ad0 @default.
- NCIT_C84522 subClassOf B3c66451dbdb3bbb8f3b373eb8111247d @default.
- NCIT_C84522 subClassOf Ba5cc52a885b2f467200f9919b54bbc77 @default.
- NCIT_C84522 subClassOf Baea27fc2b585656bd3de14aea8022805 @default.
- NCIT_C84522 subClassOf NCIT_C28193 @default.
- NCIT_C84522 subClassOf NCIT_C2991 @default.
- NCIT_C84522 subClassOf NCIT_C4873 @default.
- NCIT_C84522 subClassOf NCIT_C53529 @default.
- NCIT_C84522 subClassOf NCIT_C53543 @default.
- NCIT_C84522 subClassOf NCIT_C53547 @default.
- NCIT_C84522 subClassOf NCIT_C7057 @default.
- NCIT_C84522 subClassOf NCIT_C84522 @default.