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- NCIT_C129872 IAO_0000115 "An autosomal dominant condition caused by mutation(s) on the TCF4 gene, encoding transcription factor 4. It is characterized by intellectual disability, developmental delay, breathing problems and seizures." @default.
- NCIT_C129872 NCIT_NHC0 "C129872" @default.
- NCIT_C129872 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129872 NCIT_P108 "Pitt-Hopkins Syndrome" @default.
- NCIT_C129872 NCIT_P207 "C1970431" @default.
- NCIT_C129872 NCIT_P322 "Cellosaurus" @default.
- NCIT_C129872 NCIT_R176 NCIT_C105956 @default.
- NCIT_C129872 NCIT_R176 NCIT_C16612 @default.
- NCIT_C129872 NCIT_R176 NCIT_C20420 @default.
- NCIT_C129872 NCIT_R176 NCIT_C54362 @default.
- NCIT_C129872 normalizedInformationContent "100" @default.
- NCIT_C129872 referenceCount "1" @default.
- NCIT_C129872 hasExactSynonym "PTHS" @default.
- NCIT_C129872 hasExactSynonym "Pitt-Hopkins Syndrome" @default.
- NCIT_C129872 inSubset NCIT_C165258 @default.
- NCIT_C129872 inSubset NCIT_C192842 @default.
- NCIT_C129872 type Class @default.
- NCIT_C129872 isDefinedBy ncit.owl @default.
- NCIT_C129872 label "Pitt-Hopkins Syndrome" @default.
- NCIT_C129872 subClassOf B5790c2257bed07532f63a8f0b69bba9b @default.
- NCIT_C129872 subClassOf Bd22915819d910e1672c843951f9e38c4 @default.
- NCIT_C129872 subClassOf NCIT_C129872 @default.
- NCIT_C129872 subClassOf NCIT_C28193 @default.
- NCIT_C129872 subClassOf NCIT_C2991 @default.
- NCIT_C129872 subClassOf NCIT_C7057 @default.