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- NCIT_C148371 IAO_0000115 "An extremely rare autosomal recessive condition caused by mutation(s) in the C12orf57 gene, encoding protein C10. It is characterized by agenesis/hypoplasia of the corpus callosum, associated with developmental delay, and variable craniofacial and skeletal abnormalities." @default.
- NCIT_C148371 NCIT_NHC0 "C148371" @default.
- NCIT_C148371 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C148371 NCIT_P108 "Temtamy Syndrome" @default.
- NCIT_C148371 NCIT_P207 "C1857512" @default.
- NCIT_C148371 NCIT_P322 "Cellosaurus" @default.
- NCIT_C148371 NCIT_R176 NCIT_C16612 @default.
- NCIT_C148371 NCIT_R176 NCIT_C192734 @default.
- NCIT_C148371 NCIT_R176 NCIT_C20194 @default.
- NCIT_C148371 normalizedInformationContent "100" @default.
- NCIT_C148371 referenceCount "1" @default.
- NCIT_C148371 hasExactSynonym "TEMTYS" @default.
- NCIT_C148371 hasExactSynonym "Temtamy Syndrome" @default.
- NCIT_C148371 inSubset NCIT_C165258 @default.
- NCIT_C148371 inSubset NCIT_C192842 @default.
- NCIT_C148371 type Class @default.
- NCIT_C148371 isDefinedBy ncit.owl @default.
- NCIT_C148371 label "Temtamy Syndrome" @default.
- NCIT_C148371 subClassOf B3e371a4b63c16ec6f1f0935df8c7e258 @default.
- NCIT_C148371 subClassOf Bc9c4a46cc6b699e400820040542a4850 @default.
- NCIT_C148371 subClassOf NCIT_C148371 @default.
- NCIT_C148371 subClassOf NCIT_C28193 @default.
- NCIT_C148371 subClassOf NCIT_C2991 @default.
- NCIT_C148371 subClassOf NCIT_C7057 @default.