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- NCIT_C133743 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder." @default.
- NCIT_C133743 NCIT_NHC0 "C133743" @default.
- NCIT_C133743 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C133743 NCIT_P108 "Cortical Dysplasia-Focal Epilepsy Syndrome" @default.
- NCIT_C133743 NCIT_P207 "C1864887" @default.
- NCIT_C133743 NCIT_P322 "Cellosaurus" @default.
- NCIT_C133743 NCIT_R176 NCIT_C16612 @default.
- NCIT_C133743 NCIT_R176 NCIT_C20103 @default.
- NCIT_C133743 NCIT_R176 NCIT_C21295 @default.
- NCIT_C133743 NCIT_R176 NCIT_C73461 @default.
- NCIT_C133743 normalizedInformationContent "100" @default.
- NCIT_C133743 referenceCount "1" @default.
- NCIT_C133743 hasExactSynonym "CDFE Syndrome" @default.
- NCIT_C133743 hasExactSynonym "Cortical Dysplasia-Focal Epilepsy Syndrome" @default.
- NCIT_C133743 inSubset NCIT_C165258 @default.
- NCIT_C133743 inSubset NCIT_C192842 @default.
- NCIT_C133743 type Class @default.
- NCIT_C133743 isDefinedBy ncit.owl @default.
- NCIT_C133743 label "Cortical Dysplasia-Focal Epilepsy Syndrome" @default.
- NCIT_C133743 subClassOf B019edc922538dc94482829092a4942e8 @default.
- NCIT_C133743 subClassOf B0d514b403d6cfec70e6793a94bc3080a @default.
- NCIT_C133743 subClassOf NCIT_C133743 @default.
- NCIT_C133743 subClassOf NCIT_C28193 @default.
- NCIT_C133743 subClassOf NCIT_C2991 @default.
- NCIT_C133743 subClassOf NCIT_C4873 @default.
- NCIT_C133743 subClassOf NCIT_C53529 @default.
- NCIT_C133743 subClassOf NCIT_C53543 @default.
- NCIT_C133743 subClassOf NCIT_C53547 @default.
- NCIT_C133743 subClassOf NCIT_C7057 @default.