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- NCIT_C176897 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the CTNNB1 gene, encoding catenin beta-1. It is characterized by severe intellectual disability, progressive spastic diplegia, visual impairment, and dysmorphic craniofacial features." @default.
- NCIT_C176897 NCIT_NHC0 "C176897" @default.
- NCIT_C176897 NCIT_P106 "Mental or Behavioral Dysfunction" @default.
- NCIT_C176897 NCIT_P108 "Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects" @default.
- NCIT_C176897 NCIT_P208 "CL984211" @default.
- NCIT_C176897 NCIT_P322 "Cellosaurus" @default.
- NCIT_C176897 NCIT_R176 NCIT_C16612 @default.
- NCIT_C176897 NCIT_R176 NCIT_C20921 @default.
- NCIT_C176897 NCIT_R176 NCIT_C20987 @default.
- NCIT_C176897 normalizedInformationContent "100" @default.
- NCIT_C176897 referenceCount "1" @default.
- NCIT_C176897 hasExactSynonym "MRD19" @default.
- NCIT_C176897 hasExactSynonym "Mental Retardation, Autosomal Dominant 19" @default.
- NCIT_C176897 hasExactSynonym "NEDSDV" @default.
- NCIT_C176897 hasExactSynonym "Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects" @default.
- NCIT_C176897 inSubset NCIT_C165258 @default.
- NCIT_C176897 inSubset NCIT_C192842 @default.
- NCIT_C176897 type Class @default.
- NCIT_C176897 isDefinedBy ncit.owl @default.
- NCIT_C176897 label "Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects" @default.
- NCIT_C176897 subClassOf Ba194e6572f4cbb6c6c84e35042fd9c39 @default.
- NCIT_C176897 subClassOf Bb2be9c8e96e64b16e6709d0736a9504c @default.
- NCIT_C176897 subClassOf NCIT_C176897 @default.
- NCIT_C176897 subClassOf NCIT_C2991 @default.
- NCIT_C176897 subClassOf NCIT_C7057 @default.
- NCIT_C176897 subClassOf NCIT_C84392 @default.
- NCIT_C176897 subClassOf NCIT_C89328 @default.
- NCIT_C176897 subClassOf NCIT_C89330 @default.