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- NCIT_C119056 IAO_0000115 "An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis." @default.
- NCIT_C119056 NCIT_NHC0 "C119056" @default.
- NCIT_C119056 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C119056 NCIT_P108 "Deficiency of the Interleukin-1 Receptor Antagonist" @default.
- NCIT_C119056 NCIT_P207 "C2748507" @default.
- NCIT_C119056 NCIT_P322 "NICHD" @default.
- NCIT_C119056 NCIT_P325 "An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis." @default.
- NCIT_C119056 NCIT_R176 NCIT_C16612 @default.
- NCIT_C119056 NCIT_R176 NCIT_C21550 @default.
- NCIT_C119056 NCIT_R176 NCIT_C98164 @default.
- NCIT_C119056 normalizedInformationContent "100" @default.
- NCIT_C119056 referenceCount "1" @default.
- NCIT_C119056 hasExactSynonym "Autoinflammatory Disease due to Interleukin-1 Receptor Antagonist Deficiency" @default.
- NCIT_C119056 hasExactSynonym "DIRA" @default.
- NCIT_C119056 hasExactSynonym "Deficiency of the Interleukin-1 Receptor Antagonist" @default.
- NCIT_C119056 inSubset NCIT_C118468 @default.
- NCIT_C119056 inSubset NCIT_C90259 @default.
- NCIT_C119056 type Class @default.
- NCIT_C119056 isDefinedBy ncit.owl @default.
- NCIT_C119056 label "Deficiency of the Interleukin-1 Receptor Antagonist" @default.
- NCIT_C119056 subClassOf B231ab5b5c667eb5ac48fb19b1aa4847b @default.
- NCIT_C119056 subClassOf Bd1225bc1a4e92bfab712b7956722649d @default.
- NCIT_C119056 subClassOf NCIT_C119050 @default.
- NCIT_C119056 subClassOf NCIT_C119056 @default.
- NCIT_C119056 subClassOf NCIT_C28193 @default.
- NCIT_C119056 subClassOf NCIT_C2991 @default.
- NCIT_C119056 subClassOf NCIT_C7057 @default.