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- NCIT_C200422 IAO_0000115 "An autosomal dominant inherited syndrome caused by germline mutations of the SAMD9L gene. It is characterized by cerebellar ataxia, cytopenia in all cell lineages, and predisposition to myelodysplasia and myeloid leukemia." @default.
- NCIT_C200422 NCIT_NHC0 "C200422" @default.
- NCIT_C200422 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C200422 NCIT_P108 "SAMD9L-Related Ataxia Pancytopenia Syndrome" @default.
- NCIT_C200422 NCIT_R106 NCIT_C168744 @default.
- NCIT_C200422 NCIT_R106 NCIT_C17666 @default.
- NCIT_C200422 NCIT_R106 NCIT_C200423 @default.
- NCIT_C200422 NCIT_R106 NCIT_C36391 @default.
- NCIT_C200422 NCIT_R106 NCIT_C3910 @default.
- NCIT_C200422 NCIT_R106 NCIT_C45576 @default.
- NCIT_C200422 NCIT_R106 NCIT_C97926 @default.
- NCIT_C200422 NCIT_R106 NCIT_C97927 @default.
- NCIT_C200422 NCIT_R176 NCIT_C16612 @default.
- NCIT_C200422 NCIT_R176 NCIT_C168734 @default.
- NCIT_C200422 NCIT_R176 NCIT_C20194 @default.
- NCIT_C200422 normalizedInformationContent "92.730304365937428" @default.
- NCIT_C200422 referenceCount "3" @default.
- NCIT_C200422 hasExactSynonym "ATXPC" @default.
- NCIT_C200422 hasExactSynonym "SAMD9L-ATXPC" @default.
- NCIT_C200422 hasExactSynonym "SAMD9L-Related Ataxia Pancytopenia Syndrome" @default.
- NCIT_C200422 type Class @default.
- NCIT_C200422 isDefinedBy ncit.owl @default.
- NCIT_C200422 label "SAMD9L-Related Ataxia Pancytopenia Syndrome" @default.
- NCIT_C200422 subClassOf B2222cfad945baed70d79b126071ca5ee @default.
- NCIT_C200422 subClassOf B8a69029551c19ee2effbe39969e2c036 @default.
- NCIT_C200422 subClassOf B8c03d85206a0883afebb1e5b24f479f7 @default.
- NCIT_C200422 subClassOf B9680a49cb4d72f8d0df596b1b56c2a15 @default.
- NCIT_C200422 subClassOf NCIT_C200422 @default.
- NCIT_C200422 subClassOf NCIT_C28193 @default.
- NCIT_C200422 subClassOf NCIT_C2991 @default.
- NCIT_C200422 subClassOf NCIT_C7057 @default.