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- NCIT_C155750 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2A manifests phenotypically as Zellweger syndrome." @default.
- NCIT_C155750 NCIT_NHC0 "C155750" @default.
- NCIT_C155750 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C155750 NCIT_P108 "Peroxisome Biogenesis Disorder 2A" @default.
- NCIT_C155750 NCIT_P208 "CL556234" @default.
- NCIT_C155750 NCIT_P322 "Cellosaurus" @default.
- NCIT_C155750 NCIT_R100 NCIT_C12219 @default.
- NCIT_C155750 NCIT_R100 NCIT_C12755 @default.
- NCIT_C155750 NCIT_R100 NCIT_C12919 @default.
- NCIT_C155750 normalizedInformationContent "100" @default.
- NCIT_C155750 referenceCount "1" @default.
- NCIT_C155750 hasExactSynonym "PBD2A" @default.
- NCIT_C155750 hasExactSynonym "Peroxisome Biogenesis Disorder 2A" @default.
- NCIT_C155750 inSubset NCIT_C165258 @default.
- NCIT_C155750 inSubset NCIT_C192842 @default.
- NCIT_C155750 type Class @default.
- NCIT_C155750 isDefinedBy ncit.owl @default.
- NCIT_C155750 label "Peroxisome Biogenesis Disorder 2A" @default.
- NCIT_C155750 subClassOf NCIT_C155747 @default.
- NCIT_C155750 subClassOf NCIT_C155750 @default.
- NCIT_C155750 subClassOf NCIT_C26835 @default.
- NCIT_C155750 subClassOf NCIT_C27551 @default.
- NCIT_C155750 subClassOf NCIT_C27588 @default.
- NCIT_C155750 subClassOf NCIT_C2991 @default.
- NCIT_C155750 subClassOf NCIT_C4873 @default.
- NCIT_C155750 subClassOf NCIT_C53529 @default.
- NCIT_C155750 subClassOf NCIT_C53531 @default.
- NCIT_C155750 subClassOf NCIT_C53543 @default.
- NCIT_C155750 subClassOf NCIT_C53547 @default.
- NCIT_C155750 subClassOf NCIT_C61253 @default.
- NCIT_C155750 subClassOf NCIT_C7057 @default.