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- NCIT_C175702 IAO_0000115 "An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the CPLANE1 gene, encoding ciliogenesis and planar polarity effector 1." @default.
- NCIT_C175702 NCIT_NHC0 "C175702" @default.
- NCIT_C175702 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C175702 NCIT_P108 "Joubert Syndrome 17" @default.
- NCIT_C175702 NCIT_P207 "C3553264" @default.
- NCIT_C175702 NCIT_P322 "Cellosaurus" @default.
- NCIT_C175702 NCIT_R176 NCIT_C16612 @default.
- NCIT_C175702 NCIT_R176 NCIT_C200266 @default.
- NCIT_C175702 NCIT_R176 NCIT_C20194 @default.
- NCIT_C175702 normalizedInformationContent "100" @default.
- NCIT_C175702 referenceCount "1" @default.
- NCIT_C175702 hasExactSynonym "JBTS17" @default.
- NCIT_C175702 hasExactSynonym "Joubert Syndrome 17" @default.
- NCIT_C175702 inSubset NCIT_C165258 @default.
- NCIT_C175702 inSubset NCIT_C192842 @default.
- NCIT_C175702 type Class @default.
- NCIT_C175702 isDefinedBy ncit.owl @default.
- NCIT_C175702 label "Joubert Syndrome 17" @default.
- NCIT_C175702 subClassOf B185a4d5bfd622fd7ae3e8c8cefcdd2ac @default.
- NCIT_C175702 subClassOf Bf1a1facb139147f144e4c9d156b44d52 @default.
- NCIT_C175702 subClassOf NCIT_C175702 @default.
- NCIT_C175702 subClassOf NCIT_C28193 @default.
- NCIT_C175702 subClassOf NCIT_C2991 @default.
- NCIT_C175702 subClassOf NCIT_C4873 @default.
- NCIT_C175702 subClassOf NCIT_C53529 @default.
- NCIT_C175702 subClassOf NCIT_C53543 @default.
- NCIT_C175702 subClassOf NCIT_C53547 @default.
- NCIT_C175702 subClassOf NCIT_C7057 @default.
- NCIT_C175702 subClassOf NCIT_C74996 @default.