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Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C39577> ?p ?o ?g. }

• NCIT_C39577 IAO_0000115 "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." @default.
• NCIT_C39577 NCIT_NHC0 "C39577" @default.
• NCIT_C39577 NCIT_P106 "Disease or Syndrome" @default.
• NCIT_C39577 NCIT_P108 "Autoimmune Lymphoproliferative Syndrome-Unknown Underlying Mutation" @default.
• NCIT_C39577 NCIT_P207 "C1519711" @default.
• NCIT_C39577 NCIT_P366 "Type_3_Autoimmune_Lymphoproliferative_Syndrome" @default.
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• NCIT_C39577 NCIT_R140 NCIT_C39582 @default.
• NCIT_C39577 NCIT_R140 NCIT_C97926 @default.
• NCIT_C39577 NCIT_R140 NCIT_C97927 @default.
• NCIT_C39577 normalizedInformationContent "100" @default.
• NCIT_C39577 referenceCount "1" @default.
• NCIT_C39577 hasExactSynonym "ALPS-U" @default.
• NCIT_C39577 hasExactSynonym "ALPS-Unknown Underlying Mutation" @default.
• NCIT_C39577 hasExactSynonym "Autoimmune Lymphoproliferative Syndrome with Unknown Underlying Mutation" @default.
• NCIT_C39577 hasExactSynonym "Autoimmune Lymphoproliferative Syndrome-Undetermined variant" @default.
• NCIT_C39577 hasExactSynonym "Autoimmune Lymphoproliferative Syndrome-Unknown Underlying Mutation" @default.
• NCIT_C39577 hasExactSynonym "Type 3 ALPS" @default.
• NCIT_C39577 hasExactSynonym "Type 3 Autoimmune Lymphoproliferative Syndrome" @default.
• NCIT_C39577 type Class @default.
• NCIT_C39577 isDefinedBy ncit.owl @default.
• NCIT_C39577 label "Autoimmune Lymphoproliferative Syndrome-Unknown Underlying Mutation" @default.
• NCIT_C39577 subClassOf NCIT_C28193 @default.
• NCIT_C39577 subClassOf NCIT_C2991 @default.
• NCIT_C39577 subClassOf NCIT_C37864 @default.
• NCIT_C39577 subClassOf NCIT_C39577 @default.

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