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- NCIT_C181002 IAO_0000115 "An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the CC2D2A gene, encoding coiled-coil and C2 domain-containing protein 2A." @default.
- NCIT_C181002 NCIT_NHC0 "C181002" @default.
- NCIT_C181002 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C181002 NCIT_P108 "Joubert Syndrome 9" @default.
- NCIT_C181002 NCIT_P207 "C2676788" @default.
- NCIT_C181002 NCIT_P322 "Cellosaurus" @default.
- NCIT_C181002 NCIT_R176 NCIT_C16612 @default.
- NCIT_C181002 NCIT_R176 NCIT_C198520 @default.
- NCIT_C181002 NCIT_R176 NCIT_C20744 @default.
- NCIT_C181002 normalizedInformationContent "100" @default.
- NCIT_C181002 referenceCount "1" @default.
- NCIT_C181002 hasExactSynonym "JBTS9" @default.
- NCIT_C181002 hasExactSynonym "Joubert Syndrome 9" @default.
- NCIT_C181002 inSubset NCIT_C165258 @default.
- NCIT_C181002 inSubset NCIT_C192842 @default.
- NCIT_C181002 type Class @default.
- NCIT_C181002 isDefinedBy ncit.owl @default.
- NCIT_C181002 label "Joubert Syndrome 9" @default.
- NCIT_C181002 subClassOf Bb24924e759b2365eebfbfa3c5ac898fb @default.
- NCIT_C181002 subClassOf Bd9fc806c9fd364411b9fd184471fc5fa @default.
- NCIT_C181002 subClassOf NCIT_C181002 @default.
- NCIT_C181002 subClassOf NCIT_C28193 @default.
- NCIT_C181002 subClassOf NCIT_C2991 @default.
- NCIT_C181002 subClassOf NCIT_C4873 @default.
- NCIT_C181002 subClassOf NCIT_C53529 @default.
- NCIT_C181002 subClassOf NCIT_C53543 @default.
- NCIT_C181002 subClassOf NCIT_C53547 @default.
- NCIT_C181002 subClassOf NCIT_C7057 @default.
- NCIT_C181002 subClassOf NCIT_C74996 @default.