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- NCIT_C176909 IAO_0000115 "An inherited condition caused by autosomal dominant mutation(s) in the SAMD9L gene, encoding sterile alpha motif domain-containing protein 9-like. The condition is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia." @default.
- NCIT_C176909 NCIT_A13 NCIT_C168734 @default.
- NCIT_C176909 NCIT_NHC0 "C176909" @default.
- NCIT_C176909 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C176909 NCIT_P108 "Ataxia-Pancytopenia Syndrome" @default.
- NCIT_C176909 NCIT_P207 "C1327919" @default.
- NCIT_C176909 NCIT_P322 "CCPS" @default.
- NCIT_C176909 NCIT_P322 "Cellosaurus" @default.
- NCIT_C176909 NCIT_R176 NCIT_C16612 @default.
- NCIT_C176909 NCIT_R176 NCIT_C168734 @default.
- NCIT_C176909 NCIT_R176 NCIT_C20194 @default.
- NCIT_C176909 normalizedInformationContent "100" @default.
- NCIT_C176909 referenceCount "1" @default.
- NCIT_C176909 hasExactSynonym "ATXPC" @default.
- NCIT_C176909 hasExactSynonym "Ataxia-Pancytopenia Syndrome" @default.
- NCIT_C176909 inSubset NCIT_C165258 @default.
- NCIT_C176909 inSubset NCIT_C177281 @default.
- NCIT_C176909 inSubset NCIT_C177516 @default.
- NCIT_C176909 inSubset NCIT_C192842 @default.
- NCIT_C176909 type Class @default.
- NCIT_C176909 isDefinedBy ncit.owl @default.
- NCIT_C176909 label "Ataxia-Pancytopenia Syndrome" @default.
- NCIT_C176909 subClassOf B4496f834682916c970e6dd4e9bd071ce @default.
- NCIT_C176909 subClassOf B4d408d992719e8ceb23b6d239b63fc0a @default.
- NCIT_C176909 subClassOf NCIT_C176909 @default.
- NCIT_C176909 subClassOf NCIT_C28193 @default.
- NCIT_C176909 subClassOf NCIT_C2991 @default.
- NCIT_C176909 subClassOf NCIT_C3101 @default.
- NCIT_C176909 subClassOf NCIT_C7057 @default.