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- NCIT_C133742 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity." @default.
- NCIT_C133742 NCIT_NHC0 "C133742" @default.
- NCIT_C133742 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C133742 NCIT_P108 "Mental Retardation, Autosomal Dominant 9" @default.
- NCIT_C133742 NCIT_P207 "C3280283" @default.
- NCIT_C133742 NCIT_P322 "Cellosaurus" @default.
- NCIT_C133742 NCIT_R176 NCIT_C16612 @default.
- NCIT_C133742 NCIT_R176 NCIT_C190812 @default.
- NCIT_C133742 NCIT_R176 NCIT_C21295 @default.
- NCIT_C133742 NCIT_R176 NCIT_C28533 @default.
- NCIT_C133742 normalizedInformationContent "100" @default.
- NCIT_C133742 referenceCount "1" @default.
- NCIT_C133742 hasExactSynonym "MRD9" @default.
- NCIT_C133742 hasExactSynonym "Mental Retardation, Autosomal Dominant 9" @default.
- NCIT_C133742 hasExactSynonym "NESCAV Syndrome" @default.
- NCIT_C133742 inSubset NCIT_C165258 @default.
- NCIT_C133742 inSubset NCIT_C192842 @default.
- NCIT_C133742 type Class @default.
- NCIT_C133742 isDefinedBy ncit.owl @default.
- NCIT_C133742 label "Mental Retardation, Autosomal Dominant 9" @default.
- NCIT_C133742 subClassOf B56bea98fc23062b51e2b890a1dfa6981 @default.
- NCIT_C133742 subClassOf B7e64d0bc4732087e33f36f60fbef0024 @default.
- NCIT_C133742 subClassOf NCIT_C133742 @default.
- NCIT_C133742 subClassOf NCIT_C2991 @default.
- NCIT_C133742 subClassOf NCIT_C4873 @default.
- NCIT_C133742 subClassOf NCIT_C53529 @default.
- NCIT_C133742 subClassOf NCIT_C53543 @default.
- NCIT_C133742 subClassOf NCIT_C53547 @default.
- NCIT_C133742 subClassOf NCIT_C7057 @default.
- NCIT_C133742 subClassOf NCIT_C84392 @default.
- NCIT_C133742 subClassOf NCIT_C89328 @default.
- NCIT_C133742 subClassOf NCIT_C89330 @default.