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- NCIT_C122661 IAO_0000115 "Glycogen storage disease type I that is caused by mutations in the SLC37A4 gene. It is characterized by a deficiency of glucose-6-phosphate translocase. It may be associated with neutropenia resulting in recurrent bacterial infections, inflammatory bowel disease, gingivitis, periodontal disease, and mouth ulcers." @default.
- NCIT_C122661 NCIT_NHC0 "C122661" @default.
- NCIT_C122661 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C122661 NCIT_P108 "Glycogen Storage Disease Type Ib" @default.
- NCIT_C122661 NCIT_P207 "C0268146" @default.
- NCIT_C122661 NCIT_P322 "Cellosaurus" @default.
- NCIT_C122661 NCIT_R176 NCIT_C16612 @default.
- NCIT_C122661 NCIT_R176 NCIT_C179859 @default.
- NCIT_C122661 NCIT_R176 NCIT_C21295 @default.
- NCIT_C122661 NCIT_R176 NCIT_C28533 @default.
- NCIT_C122661 normalizedInformationContent "100" @default.
- NCIT_C122661 referenceCount "1" @default.
- NCIT_C122661 hasExactSynonym "Glycogen Storage Disease Type I non-a" @default.
- NCIT_C122661 hasExactSynonym "Glycogen Storage Disease Type Ib" @default.
- NCIT_C122661 inSubset NCIT_C165258 @default.
- NCIT_C122661 inSubset NCIT_C192842 @default.
- NCIT_C122661 type Class @default.
- NCIT_C122661 isDefinedBy ncit.owl @default.
- NCIT_C122661 label "Glycogen Storage Disease Type Ib" @default.
- NCIT_C122661 subClassOf B2f4754427f41805b79060258c5c951cb @default.
- NCIT_C122661 subClassOf Ba586bb618dbfeba3dc89414a6db45a45 @default.
- NCIT_C122661 subClassOf NCIT_C122661 @default.
- NCIT_C122661 subClassOf NCIT_C2991 @default.
- NCIT_C122661 subClassOf NCIT_C3235 @default.
- NCIT_C122661 subClassOf NCIT_C34816 @default.
- NCIT_C122661 subClassOf NCIT_C4873 @default.
- NCIT_C122661 subClassOf NCIT_C53529 @default.
- NCIT_C122661 subClassOf NCIT_C53543 @default.
- NCIT_C122661 subClassOf NCIT_C53547 @default.
- NCIT_C122661 subClassOf NCIT_C61272 @default.
- NCIT_C122661 subClassOf NCIT_C7057 @default.
- NCIT_C122661 subClassOf NCIT_C84733 @default.