Autoimmune Lymphoproliferative Syndrome
Go to external page http://purl.bioontology.org/ontology/MESH/D056735Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY.
Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene.
Instance info
Lymphoproliferative Syndrome, Autoimmune, Canale-Smith Syndrome, Caspase 8 Deficiency, Autoimmunes lymphoproliferatives Syndrom Type 2B (ALPS2B) (DE), Deficiencies, Caspase-8, Caspase-8 Deficiencies, Autoimmune Lymphoproliferative Syndromes, Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant, Syndrome, Canale-Smith, Autoimmunes lymphoproliferatives Syndrom Type 1, autosomal dominant (DE), Autoimmunes lymphoproliferatives Syndrom Type 2B (DE), Syndrome, Autoimmune Lymphoproliferative, Syndrome, Canale Smith, Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant, Deficiency, Caspase 8, Canale-Smith-Syndrom (DE), Caspase-8 Deficiency, Syndromes, Canale-Smith, Autoimmune Lymphoproliferative Syndrome Type 2B, Caspase 8 Deficiencies, Canale Smith Syndrome, Deficiency, Caspase-8, Autoimmune Lymphoproliferative Syndrome, Type IIb, Canale-Smith Syndromes, Autoimmunes lymphoproliferatives Syndrom (DE), Syndromes, Autoimmune Lymphoproliferative, Lymphoproliferative Syndromes, Autoimmune, Deficiencies, Caspase 8, Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B)
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
1
20100101
D019014,D053181,D053450,D053455
2010
20090706
20170717
C15.604.515.138,C16.320.089,C20.111.288,C20.683.515.124
2010
http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
http://purl.bioontology.org/ontology/MESH/D053181,http://purl.bioontology.org/ontology/MESH/D053455,http://purl.bioontology.org/ontology/MESH/D019014,http://purl.bioontology.org/ontology/MESH/D053450
http://purl.bioontology.org/ontology/MESH/D017436,http://purl.bioontology.org/ontology/MESH/D009136,http://purl.bioontology.org/ontology/MESH/D025063,http://purl.bioontology.org/ontology/MESH/D010009,http://purl.bioontology.org/ontology/MESH/D010004,http://purl.bioontology.org/ontology/MESH/D000312,http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D052159,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D054179,http://purl.bioontology.org/ontology/MESH/D050010,http://purl.bioontology.org/ontology/MESH/D065768,http://purl.bioontology.org/ontology/MESH/D010013,http://purl.bioontology.org/ontology/MESH/D006099,http://purl.bioontology.org/ontology/MESH/D015785,http://purl.bioontology.org/ontology/MESH/D019867,http://purl.bioontology.org/ontology/MESH/D020294,http://purl.bioontology.org/ontology/MESH/D007619,http://purl.bioontology.org/ontology/MESH/D025861,http://purl.bioontology.org/ontology/MESH/D015275,http://purl.bioontology.org/ontology/MESH/D009879,http://purl.bioontology.org/ontology/MESH/D008382,http://purl.bioontology.org/ontology/MESH/D016884,http://purl.bioontology.org/ontology/MESH/D010381,http://purl.bioontology.org/ontology/MESH/D006362,http://purl.bioontology.org/ontology/MESH/D008661,http://purl.bioontology.org/ontology/MESH/D015433,http://purl.bioontology.org/ontology/MESH/D008380,http://purl.bioontology.org/ontology/MESH/D000071070,http://purl.bioontology.org/ontology/MESH/D053306,http://purl.bioontology.org/ontology/MESH/D008258,http://purl.bioontology.org/ontology/MESH/D010391,http://purl.bioontology.org/ontology/MESH/D003922,http://purl.bioontology.org/ontology/MESH/D007161,http://purl.bioontology.org/ontology/MESH/D010392,http://purl.bioontology.org/ontology/MESH/D006111,http://purl.bioontology.org/ontology/MESH/D009101,http://purl.bioontology.org/ontology/MESH/D010954,http://purl.bioontology.org/ontology/MESH/D000074079,http://purl.bioontology.org/ontology/MESH/D040181,http://purl.bioontology.org/ontology/MESH/D003874,http://purl.bioontology.org/ontology/MESH/D056648,http://purl.bioontology.org/ontology/MESH/D000077733,http://purl.bioontology.org/ontology/MESH/D000069281,http://purl.bioontology.org/ontology/MESH/D000361,http://purl.bioontology.org/ontology/MESH/D000071698,http://purl.bioontology.org/ontology/MESH/D019896,http://purl.bioontology.org/ontology/MESH/D001172,http://purl.bioontology.org/ontology/MESH/D058747,http://purl.bioontology.org/ontology/MESH/D012507,http://purl.bioontology.org/ontology/MESH/D001171,http://purl.bioontology.org/ontology/MESH/D000072661,http://purl.bioontology.org/ontology/MESH/D053840,http://purl.bioontology.org/ontology/MESH/D055501,http://purl.bioontology.org/ontology/MESH/D050174,http://purl.bioontology.org/ontology/MESH/D007943,http://purl.bioontology.org/ontology/MESH/D005922,http://purl.bioontology.org/ontology/MESH/D007945,http://purl.bioontology.org/ontology/MESH/D012751,http://purl.bioontology.org/ontology/MESH/D014898,http://purl.bioontology.org/ontology/MESH/D012873,http://purl.bioontology.org/ontology/MESH/D058631,http://purl.bioontology.org/ontology/MESH/D016553,http://purl.bioontology.org/ontology/MESH/D006453,http://purl.bioontology.org/ontology/MESH/D004392,http://purl.bioontology.org/ontology/MESH/D013967,http://purl.bioontology.org/ontology/MESH/D000224,http://purl.bioontology.org/ontology/MESH/D049970,http://purl.bioontology.org/ontology/MESH/D029502,http://purl.bioontology.org/ontology/MESH/D046589,http://purl.bioontology.org/ontology/MESH/D005871,http://purl.bioontology.org/ontology/MESH/D009958,http://purl.bioontology.org/ontology/MESH/D000744,http://purl.bioontology.org/ontology/MESH/D056660,http://purl.bioontology.org/ontology/MESH/D000745,http://purl.bioontology.org/ontology/MESH/D062027,http://purl.bioontology.org/ontology/MESH/D008223,http://purl.bioontology.org/ontology/MESH/D008180,http://purl.bioontology.org/ontology/MESH/D031845,http://purl.bioontology.org/ontology/MESH/D024741,http://purl.bioontology.org/ontology/MESH/D000077428,http://purl.bioontology.org/ontology/MESH/D056731,http://purl.bioontology.org/ontology/MESH/D002636,http://purl.bioontology.org/ontology/MESH/D003966,http://purl.bioontology.org/ontology/MESH/D000699,http://purl.bioontology.org/ontology/MESH/D009386,http://purl.bioontology.org/ontology/MESH/D007244,http://purl.bioontology.org/ontology/MESH/D001260,http://purl.bioontology.org/ontology/MESH/D016738,http://purl.bioontology.org/ontology/MESH/D009261,http://purl.bioontology.org/ontology/MESH/D016736,http://purl.bioontology.org/ontology/MESH/D000075363,http://purl.bioontology.org/ontology/MESH/D020271,http://purl.bioontology.org/ontology/MESH/D019693,http://purl.bioontology.org/ontology/MESH/D020274,http://purl.bioontology.org/ontology/MESH/D003550,http://purl.bioontology.org/ontology/MESH/D008203,http://purl.bioontology.org/ontology/MESH/D056685,http://purl.bioontology.org/ontology/MESH/D056684,http://purl.bioontology.org/ontology/MESH/D007119
T000903211,T734564,T734036,T812546,T734032,T734031,T812547,T735248,T734037,T746514
GHR (2014),ORD (2010),OMIM (2013),NLM (2010)
C1328840,C2717884,C1846545
http://purl.bioontology.org/ontology/STY/T047
http://purl.bioontology.org/ontology/MESH/C565833,http://purl.bioontology.org/ontology/MESH/C566615,http://purl.bioontology.org/ontology/MESH/C566614,http://purl.bioontology.org/ontology/MESH/C566613,http://purl.bioontology.org/ontology/MESH/C535950
T047