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- MONDO_0014253 IAO_0000115 "OBSOLETE. 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.
- MONDO_0014253 IAO_0000231 IAO_0000229 @default.
- MONDO_0014253 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/4098" @default.
- MONDO_0014253 normalizedInformationContent "100" @default.
- MONDO_0014253 referenceCount "1" @default.
- MONDO_0014253 consider "MONDO:8000023" @default.
- MONDO_0014253 consider "MONDO:8000024" @default.
- MONDO_0014253 hasExactSynonym "ALPS-U" @default.
- MONDO_0014253 hasExactSynonym "ALPS3" @default.
- MONDO_0014253 hasExactSynonym "CVID9" @default.
- MONDO_0014253 hasExactSynonym "PRKCD autoimmune lymphoproliferative syndrome" @default.
- MONDO_0014253 hasExactSynonym "autoimmune lymphoproliferative syndrome caused by mutation in PRKCD" @default.
- MONDO_0014253 hasExactSynonym "autoimmune lymphoproliferative syndrome type III" @default.
- MONDO_0014253 hasExactSynonym "autoimmune lymphoproliferative syndrome-undetermined variant" @default.
- MONDO_0014253 hasExactSynonym "common variable immunodeficiency 9" @default.
- MONDO_0014253 hasExactSynonym "type 3 ALPS" @default.
- MONDO_0014253 hasRelatedSynonym "autoimmune lymphoproliferative syndrome, type 3" @default.
- MONDO_0014253 hasRelatedSynonym "autoimmune lymphoproliferative syndrome, type III" @default.
- MONDO_0014253 hasRelatedSynonym "immunodeficiency, common variable, 9" @default.
- MONDO_0014253 hasRelatedSynonym "immunodeficiency, common variable, 9, formerly" @default.
- MONDO_0014253 id "MONDO:0014253" @default.
- MONDO_0014253 type Class @default.
- MONDO_0014253 comment "This will be obsoleted in the 2022-04-01 release. The term will be split and the new IDs for this term will be MONDO:800023 (Type 3 Autoimmune Lymphoproliferative Syndrome) and MONDO:800024 (autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD)." @default.
- MONDO_0014253 isDefinedBy mondo.owl @default.
- MONDO_0014253 label "obsolete autoimmune lymphoproliferative syndrome type 3" @default.
- MONDO_0014253 subClassOf MONDO_0014253 @default.
- MONDO_0014253 subClassOf Thing @default.
- MONDO_0014253 deprecated "true" @default.