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- NCIT_C178414 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the SYNGAP1 gene, encoding Ras/Rap GTPase-activating protein SynGAP. It is characterized by intellectual disability, with most patients developing generalized epilepsy, with some having autism spectrum disorder." @default.
- NCIT_C178414 NCIT_NHC0 "C178414" @default.
- NCIT_C178414 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C178414 NCIT_P108 "Mental Retardation, Autosomal Dominant 5" @default.
- NCIT_C178414 NCIT_P207 "C2675473" @default.
- NCIT_C178414 NCIT_P322 "Cellosaurus" @default.
- NCIT_C178414 NCIT_R176 NCIT_C16612 @default.
- NCIT_C178414 NCIT_R176 NCIT_C190809 @default.
- NCIT_C178414 NCIT_R176 NCIT_C20921 @default.
- NCIT_C178414 normalizedInformationContent "100" @default.
- NCIT_C178414 referenceCount "1" @default.
- NCIT_C178414 hasExactSynonym "MRD5" @default.
- NCIT_C178414 hasExactSynonym "Mental Retardation, Autosomal Dominant 5" @default.
- NCIT_C178414 inSubset NCIT_C165258 @default.
- NCIT_C178414 inSubset NCIT_C192842 @default.
- NCIT_C178414 type Class @default.
- NCIT_C178414 isDefinedBy ncit.owl @default.
- NCIT_C178414 label "Mental Retardation, Autosomal Dominant 5" @default.
- NCIT_C178414 subClassOf Bc92e8ee440c0a588f6bc221092124394 @default.
- NCIT_C178414 subClassOf Bdfb0de6ddfc183d856d42164c87dc741 @default.
- NCIT_C178414 subClassOf NCIT_C178414 @default.
- NCIT_C178414 subClassOf NCIT_C2991 @default.
- NCIT_C178414 subClassOf NCIT_C7057 @default.
- NCIT_C178414 subClassOf NCIT_C84392 @default.
- NCIT_C178414 subClassOf NCIT_C89328 @default.
- NCIT_C178414 subClassOf NCIT_C89330 @default.