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- NCIT_C174441 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the OTULIN gene, encoding ubiquitin thioesterase otulin. It is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy." @default.
- NCIT_C174441 NCIT_NHC0 "C174441" @default.
- NCIT_C174441 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C174441 NCIT_P108 "Autoinflammation, Panniculitis, and Dermatosis Syndrome" @default.
- NCIT_C174441 NCIT_P208 "CL602021" @default.
- NCIT_C174441 NCIT_P322 "Cellosaurus" @default.
- NCIT_C174441 NCIT_R176 NCIT_C16612 @default.
- NCIT_C174441 NCIT_R176 NCIT_C176454 @default.
- NCIT_C174441 NCIT_R176 NCIT_C21281 @default.
- NCIT_C174441 NCIT_R176 NCIT_C25804 @default.
- NCIT_C174441 NCIT_R176 NCIT_C26003 @default.
- NCIT_C174441 NCIT_R176 NCIT_C28404 @default.
- NCIT_C174441 normalizedInformationContent "100" @default.
- NCIT_C174441 referenceCount "1" @default.
- NCIT_C174441 hasExactSynonym "AIPDS" @default.
- NCIT_C174441 hasExactSynonym "Autoinflammation, Panniculitis, and Dermatosis Syndrome" @default.
- NCIT_C174441 hasExactSynonym "ORAS" @default.
- NCIT_C174441 hasExactSynonym "Otulin-Related Autoinflammatory Syndrome" @default.
- NCIT_C174441 hasExactSynonym "Otulipenia" @default.
- NCIT_C174441 inSubset NCIT_C165258 @default.
- NCIT_C174441 inSubset NCIT_C192842 @default.
- NCIT_C174441 type Class @default.
- NCIT_C174441 isDefinedBy ncit.owl @default.
- NCIT_C174441 label "Autoinflammation, Panniculitis, and Dermatosis Syndrome" @default.
- NCIT_C174441 subClassOf B4b3dba044d411559d59680976924f0c8 @default.
- NCIT_C174441 subClassOf Bb6a0c98ab91b485b28e68ce899b3690c @default.
- NCIT_C174441 subClassOf NCIT_C119050 @default.
- NCIT_C174441 subClassOf NCIT_C174441 @default.
- NCIT_C174441 subClassOf NCIT_C28193 @default.
- NCIT_C174441 subClassOf NCIT_C2991 @default.
- NCIT_C174441 subClassOf NCIT_C7057 @default.