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- NCIT_C126868 IAO_0000115 "A congenital disorder of glycosylation sub-type caused by mutation(s) in the PMM2 gene, encoding phosphomannomutase 2." @default.
- NCIT_C126868 NCIT_NHC0 "C126868" @default.
- NCIT_C126868 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C126868 NCIT_P108 "Congenital Disorder of Glycosylation Type Ia" @default.
- NCIT_C126868 NCIT_P207 "C0349653" @default.
- NCIT_C126868 NCIT_P322 "Cellosaurus" @default.
- NCIT_C126868 NCIT_R176 NCIT_C16612 @default.
- NCIT_C126868 NCIT_R176 NCIT_C191424 @default.
- NCIT_C126868 NCIT_R176 NCIT_C21281 @default.
- NCIT_C126868 NCIT_R176 NCIT_C25941 @default.
- NCIT_C126868 normalizedInformationContent "100" @default.
- NCIT_C126868 referenceCount "1" @default.
- NCIT_C126868 hasExactSynonym "CDGIa" @default.
- NCIT_C126868 hasExactSynonym "Congenital Disorder of Glycosylation Type Ia" @default.
- NCIT_C126868 inSubset NCIT_C165258 @default.
- NCIT_C126868 inSubset NCIT_C192842 @default.
- NCIT_C126868 type Class @default.
- NCIT_C126868 isDefinedBy ncit.owl @default.
- NCIT_C126868 label "Congenital Disorder of Glycosylation Type Ia" @default.
- NCIT_C126868 subClassOf B68d148dbf6b7254dcc4a75028fa5c013 @default.
- NCIT_C126868 subClassOf Be2953c9e97322a5026dd13f29d359339 @default.
- NCIT_C126868 subClassOf NCIT_C126868 @default.
- NCIT_C126868 subClassOf NCIT_C28193 @default.
- NCIT_C126868 subClassOf NCIT_C2991 @default.
- NCIT_C126868 subClassOf NCIT_C3235 @default.
- NCIT_C126868 subClassOf NCIT_C4873 @default.
- NCIT_C126868 subClassOf NCIT_C53529 @default.
- NCIT_C126868 subClassOf NCIT_C53543 @default.
- NCIT_C126868 subClassOf NCIT_C53547 @default.
- NCIT_C126868 subClassOf NCIT_C7057 @default.
- NCIT_C126868 subClassOf NCIT_C84615 @default.
- NCIT_C126868 subClassOf NCIT_C97089 @default.