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- NCIT_C129930 IAO_0000115 "An X-linked recessive condition caused by mutation(s) in the L1CAM gene, encoding neural cell adhesion molecule L1. It is characterized by mental retardation, aphasia, shuffling gait and adducted thumbs." @default.
- NCIT_C129930 NCIT_NHC0 "C129930" @default.
- NCIT_C129930 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129930 NCIT_P108 "MASA Syndrome" @default.
- NCIT_C129930 NCIT_P207 "C0795953" @default.
- NCIT_C129930 NCIT_P322 "Cellosaurus" @default.
- NCIT_C129930 NCIT_R176 NCIT_C112136 @default.
- NCIT_C129930 NCIT_R176 NCIT_C16612 @default.
- NCIT_C129930 NCIT_R176 NCIT_C20988 @default.
- NCIT_C129930 NCIT_R176 NCIT_C21295 @default.
- NCIT_C129930 normalizedInformationContent "100" @default.
- NCIT_C129930 referenceCount "1" @default.
- NCIT_C129930 hasExactSynonym "CRASH Syndrome" @default.
- NCIT_C129930 hasExactSynonym "Gareis-Mason Syndrome" @default.
- NCIT_C129930 hasExactSynonym "MASA Syndrome" @default.
- NCIT_C129930 hasExactSynonym "Mental retardation, Aphasia, Shuffling Gait, and Adducted Thumbs" @default.
- NCIT_C129930 hasExactSynonym "SPG1" @default.
- NCIT_C129930 hasExactSynonym "Spastic Paraplegia, X-linked" @default.
- NCIT_C129930 inSubset NCIT_C165258 @default.
- NCIT_C129930 inSubset NCIT_C192842 @default.
- NCIT_C129930 type Class @default.
- NCIT_C129930 isDefinedBy ncit.owl @default.
- NCIT_C129930 label "MASA Syndrome" @default.
- NCIT_C129930 subClassOf Ba071f7c57653f184f3181385c33bbef7 @default.
- NCIT_C129930 subClassOf Ba2047e3cd78928cb8131cadbe9c7c4d2 @default.
- NCIT_C129930 subClassOf NCIT_C129930 @default.
- NCIT_C129930 subClassOf NCIT_C2991 @default.
- NCIT_C129930 subClassOf NCIT_C3101 @default.
- NCIT_C129930 subClassOf NCIT_C4873 @default.
- NCIT_C129930 subClassOf NCIT_C53529 @default.
- NCIT_C129930 subClassOf NCIT_C53543 @default.
- NCIT_C129930 subClassOf NCIT_C53547 @default.
- NCIT_C129930 subClassOf NCIT_C7057 @default.
- NCIT_C129930 subClassOf NCIT_C85865 @default.