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- NCIT_C84728 IAO_0000115 "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs." @default.
- NCIT_C84728 NCIT_NHC0 "C84728" @default.
- NCIT_C84728 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84728 NCIT_P108 "Giant Axonal Neuropathy" @default.
- NCIT_C84728 NCIT_P207 "C1850386" @default.
- NCIT_C84728 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84728 NCIT_R100 NCIT_C12219 @default.
- NCIT_C84728 NCIT_R100 NCIT_C12755 @default.
- NCIT_C84728 NCIT_R100 NCIT_C12919 @default.
- NCIT_C84728 NCIT_R176 NCIT_C106422 @default.
- NCIT_C84728 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84728 NCIT_R176 NCIT_C20744 @default.
- NCIT_C84728 normalizedInformationContent "100" @default.
- NCIT_C84728 referenceCount "1" @default.
- NCIT_C84728 hasExactSynonym "Giant Axonal Neuropathy" @default.
- NCIT_C84728 inSubset NCIT_C165258 @default.
- NCIT_C84728 inSubset NCIT_C192842 @default.
- NCIT_C84728 type Class @default.
- NCIT_C84728 isDefinedBy ncit.owl @default.
- NCIT_C84728 label "Giant Axonal Neuropathy" @default.
- NCIT_C84728 subClassOf B1bf7bbf080b70e7016d542b11fd61efd @default.
- NCIT_C84728 subClassOf B5aeb12aefebd134513b3840ed360a457 @default.
- NCIT_C84728 subClassOf NCIT_C26835 @default.
- NCIT_C84728 subClassOf NCIT_C27551 @default.
- NCIT_C84728 subClassOf NCIT_C27588 @default.
- NCIT_C84728 subClassOf NCIT_C2991 @default.
- NCIT_C84728 subClassOf NCIT_C4731 @default.
- NCIT_C84728 subClassOf NCIT_C4873 @default.
- NCIT_C84728 subClassOf NCIT_C53529 @default.
- NCIT_C84728 subClassOf NCIT_C53531 @default.
- NCIT_C84728 subClassOf NCIT_C53543 @default.
- NCIT_C84728 subClassOf NCIT_C53547 @default.
- NCIT_C84728 subClassOf NCIT_C7057 @default.
- NCIT_C84728 subClassOf NCIT_C84728 @default.