ONTOLOGY REPORT - ANNOTATIONS


Term:autoimmune lymphoproliferative syndrome
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Accession:DOID:6688 term browser browse the term
Definition:Rare 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.
Synonyms:exact_synonym: ALPS;   Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant;   Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant;   Autoimmune Lymphoproliferative Syndromes;   Canale Smith syndromes;   Canale-Smith syndrome
 narrow_synonym: ALPS1A;   ALPS1B;   AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA;   AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE;   AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB
 primary_id: MESH:D056735
 alt_id: OMIM:601859;   RDO:0001333
 xref: GARD:8686;   ORDO:3261
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autoimmune lymphoproliferative syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:8554872
G Casp8 caspase 8 JBrowse link 9 65,614,142 65,662,624 RGD:11554173
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:7240710
RGD:8554872
RGD:12904015
RGD:12903983
RGD:12903956
RGD:11554173
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:8554872
RGD:7240710
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204846
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:11554173
autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casp8 caspase 8 JBrowse link 9 65,614,142 65,662,624 RGD:8554872
RGD:7240710
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkcd protein kinase C, delta JBrowse link 16 6,655,131 6,675,746 RGD:7240710
RGD:8554872
autoimmune lymphoproliferative syndrome type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:7240710
RGD:8554872
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:7240710
RGD:8554872
Autoimmune Lymphoproliferative Syndrome, Type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8554872
Autoimmune Lymphoproliferative Syndrome, Type V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      primary immunodeficiency disease 936
        lymphoproliferative syndrome 594
          autoimmune lymphoproliferative syndrome 9
            Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive 0
            Autoimmune Lymphoproliferative Syndrome, Type IA 1
            Autoimmune Lymphoproliferative Syndrome, Type IB 0
            Autoimmune Lymphoproliferative Syndrome, Type V 1
            Dianzani Autoimmune Lymphoproliferative Syndrome 0
            autoimmune lymphoproliferative syndrome type 2A 0
            autoimmune lymphoproliferative syndrome type 2B 1
            autoimmune lymphoproliferative syndrome type 3 1
            autoimmune lymphoproliferative syndrome type 4 2
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      Immune & Inflammatory Diseases 3003
        immune system disease 2425
          lymphatic system disease 789
            lymphoproliferative syndrome 594
              autoimmune lymphoproliferative syndrome 9
                Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive 0
                Autoimmune Lymphoproliferative Syndrome, Type IA 1
                Autoimmune Lymphoproliferative Syndrome, Type IB 0
                Autoimmune Lymphoproliferative Syndrome, Type V 1
                Dianzani Autoimmune Lymphoproliferative Syndrome 0
                autoimmune lymphoproliferative syndrome type 2A 0
                autoimmune lymphoproliferative syndrome type 2B 1
                autoimmune lymphoproliferative syndrome type 3 1
                autoimmune lymphoproliferative syndrome type 4 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.