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- NCIT_C176619 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the PSMB8 gene, encoding proteasome subunit beta type-8. It is characterized by early onset annular erythematous plaques, partial lipodystrophy, and recurrent fever." @default.
- NCIT_C176619 NCIT_NHC0 "C176619" @default.
- NCIT_C176619 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C176619 NCIT_P108 "Proteasome-Associated Autoinflammatory Syndrome 1" @default.
- NCIT_C176619 NCIT_P208 "CL965939" @default.
- NCIT_C176619 NCIT_P322 "Cellosaurus" @default.
- NCIT_C176619 NCIT_R176 NCIT_C112075 @default.
- NCIT_C176619 NCIT_R176 NCIT_C16612 @default.
- NCIT_C176619 NCIT_R176 NCIT_C21281 @default.
- NCIT_C176619 NCIT_R176 NCIT_C25804 @default.
- NCIT_C176619 NCIT_R176 NCIT_C26003 @default.
- NCIT_C176619 normalizedInformationContent "100" @default.
- NCIT_C176619 referenceCount "1" @default.
- NCIT_C176619 hasExactSynonym "CANDLE" @default.
- NCIT_C176619 hasExactSynonym "Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) Syndrome" @default.
- NCIT_C176619 hasExactSynonym "Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome" @default.
- NCIT_C176619 hasExactSynonym "PRAAS1" @default.
- NCIT_C176619 hasExactSynonym "Proteasome-Associated Autoinflammatory Syndrome 1" @default.
- NCIT_C176619 inSubset NCIT_C165258 @default.
- NCIT_C176619 inSubset NCIT_C192842 @default.
- NCIT_C176619 type Class @default.
- NCIT_C176619 isDefinedBy ncit.owl @default.
- NCIT_C176619 label "Proteasome-Associated Autoinflammatory Syndrome 1" @default.
- NCIT_C176619 subClassOf B8894ddd8fe266dc034d71c2110715ddf @default.
- NCIT_C176619 subClassOf Bcba1dcebceaf5dc21f339396faa1df8e @default.
- NCIT_C176619 subClassOf NCIT_C119050 @default.
- NCIT_C176619 subClassOf NCIT_C176619 @default.
- NCIT_C176619 subClassOf NCIT_C28193 @default.
- NCIT_C176619 subClassOf NCIT_C2991 @default.
- NCIT_C176619 subClassOf NCIT_C7057 @default.