ONTOLOGY REPORT - ANNOTATIONS


Term:Hereditary Autoinflammatory Diseases
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Accession:DOID:9006364 term browser browse the term
Definition:Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES.
Synonyms:exact_synonym: Hereditary Autoinflammation Disease;   Hereditary Autoinflammation Diseases;   Hereditary Autoinflammatory Disease;   Hereditary Periodic Fever Syndromes;   Hereditary Recurrent Fever;   Hereditary Recurrent Fevers;   Reimann Periodic Disease;   Reimann Periodic Diseases;   Siegal Cattan Mamou Disease
 primary_id: MESH:D056660;   RDO:0002300
For additional species annotation, visit the Alliance of Genome Resources.


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Hereditary Autoinflammatory Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 6 22,167,874 22,194,755 RGD:11554173
G Tnfaip3 TNF alpha induced protein 3 JBrowse link 1 14,401,103 14,416,369 RGD:11554173
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp1a NLR family, pyrin domain containing 1A JBrowse link 10 57,692,474 57,747,608 RGD:8554872
RGD:7240710
Autoinflammation with Infantile Enterocolitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 6 22,167,874 22,194,755 RGD:8554872
RGD:7240710
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcg2 phospholipase C, gamma 2 JBrowse link 19 50,039,410 50,173,543 RGD:7240710
RGD:8554872
autosomal dominant familial periodic fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:7240710
RGD:8554872
Behcet's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1a ATP binding cassette subfamily B member 1A JBrowse link 4 22,339,829 22,517,642 RGD:8657073
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:7829810
RGD:8142349
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8694430
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:11554173
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:11554173
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068907
RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8548882
RGD:8549488
G Ccr1 C-C motif chemokine receptor 1 JBrowse link 8 132,996,646 133,002,201 RGD:11554173
G Ccr5 C-C motif chemokine receptor 5 JBrowse link 8 133,192,398 133,215,599 RGD:4892106
RGD:8551827
RGD:8551814
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8547820
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:7411737
G Cpb2 carboxypeptidase B2 JBrowse link 15 57,290,849 57,339,762 RGD:1598474
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9491757
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:7411682
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:8552789
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:8661801
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link 2 1,410,877 1,449,734 RGD:11554173
G F5 coagulation factor V JBrowse link 13 82,479,997 82,535,540 RGD:7394769
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8662438
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:5508432
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:7777175
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:8158115
RGD:11554173
RGD:8547575
RGD:8158123
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8142356
RGD:8142377
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:12791269
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:1598628
RGD:11554173
RGD:7364843
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:8698672
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:4889844
RGD:8655927
RGD:8655926
RGD:8655910
RGD:8655897
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7401213
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:7401213
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:5147902
G Il21r interleukin 21 receptor JBrowse link 1 196,996,405 197,024,185 RGD:6892926
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:8549550
RGD:8549565
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:5147902
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829752
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:1582300
G Itgal integrin subunit alpha L JBrowse link 1 198,744,053 198,781,745 RGD:11554173
G Itgb2 integrin subunit beta 2 JBrowse link 20 11,777,773 11,815,647 RGD:11554173
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:1582155
RGD:1582154
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:8554872
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8657044
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547820
RGD:8657044
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:8552650
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:8158059
RGD:13204711
RGD:8554872
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:7771576
RGD:7775050
RGD:7775048
RGD:7771577
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:8547573
G Proz protein Z, vitamin K-dependent plasma glycoprotein JBrowse link 16 81,784,348 81,797,889 RGD:1580692
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 JBrowse link 8 60,760,040 60,799,364 RGD:8554872
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:6484733
RGD:7829745
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7483565
G RT1-CE13 RT1 class I, locus CE13 RGD:7364873
RGD:7364939
RGD:7364918
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365104
G RT1-DMa RT1 class II, locus DMa JBrowse link 20 3,935,512 3,938,915 RGD:1582700
G RT1-DMb RT1 class II, locus DMb JBrowse link 20 3,945,383 3,952,838 RGD:1582700
G RT1-M5 RT1 class Ib, locus M5 JBrowse link 20 2,038,158 2,040,422 RGD:7364939
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547693
RGD:11554173
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:5684936
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:1580846
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:6483021
RGD:8694309
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:8661713
RGD:11554173
RGD:8661718
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:5147902
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8552883
RGD:8552915
RGD:8552888
RGD:8552885
G Tlr3 toll-like receptor 3 JBrowse link 16 50,016,466 50,031,011 RGD:8552883
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7777175
RGD:8552915
RGD:8552888
RGD:7777176
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7394759
RGD:12904048
RGD:12904040
RGD:12904036
RGD:8142356
RGD:7401213
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:7401213
RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8158077
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8655578
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:6480476
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:1580642
CINCA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:8554872
RGD:7240710
Cold Hypersensitivity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpa1 transient receptor potential cation channel, subfamily A, member 1 JBrowse link 5 3,783,247 3,836,485 RGD:10043615
Cryopyrin-Associated Periodic Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:9068438
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8549803
G Mme membrane metallo-endopeptidase JBrowse link 2 153,799,203 153,880,910 RGD:11554173
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 6 22,167,874 22,194,755 RGD:11554173
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:8554872
RGD:11554173
G Plcg2 phospholipase C, gamma 2 JBrowse link 19 50,039,410 50,173,543 RGD:11554173
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8554872
RGD:7240710
Familial Autoinflammatory Syndrome, Behcet-like term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfaip3 TNF alpha induced protein 3 JBrowse link 1 14,401,103 14,416,369 RGD:8554872
RGD:7240710
familial cold autoinflammatory syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp12 NLR family, pyrin domain containing 12 JBrowse link 1 64,506,750 64,543,908 RGD:8554872
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:8554872
familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:7240710
RGD:8554872
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp12 NLR family, pyrin domain containing 12 JBrowse link 1 64,506,750 64,543,908 RGD:7240710
RGD:8554872
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcg2 phospholipase C, gamma 2 JBrowse link 19 50,039,410 50,173,543 RGD:7240710
RGD:8554872
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 6 22,167,874 22,194,755 RGD:8554872
RGD:7240710
familial Mediterranean fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:5686880
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:8554872
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9480233
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:5508806
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655877
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:6482659
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:5686880
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:5129184
RGD:8554872
RGD:11554173
RGD:7349344
RGD:7349343
RGD:7240710
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:13204709
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:5508806
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:8554872
G Serpina1 serpin family A member 1 JBrowse link 6 127,610,241 127,632,265 RGD:8554872
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13207415
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:5685013
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7794686
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:8554872
Familial Mediterranean Fever, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:7240710
RGD:8554872
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psma3 proteasome subunit alpha 3 JBrowse link 6 93,423,029 93,444,223 RGD:8554872
G Psmb8 proteasome subunit beta 8 JBrowse link 20 3,990,809 3,993,772 RGD:7240710
RGD:8554872
mevalonic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9585642
G Mmab metabolism of cobalamin associated B JBrowse link 12 47,920,712 47,935,438 RGD:8554872
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:7240710
RGD:8554872
RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:9585642
Muckle-Wells syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:6906895
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:7240710
RGD:8554872
RGD:11554173
otulipenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otulin OTU deubiquitinase with linear linkage specificity JBrowse link 2 80,267,724 80,293,204 RGD:8554872
RGD:7240710
Periodic Fever, Menstrual Cycle-Dependent term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htr1a 5-hydroxytryptamine receptor 1A JBrowse link 2 36,246,628 36,247,896 RGD:7240710
RGD:8554872
PFAPA Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:13204855
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomp proteasome maturation protein JBrowse link 12 8,746,948 8,759,433 RGD:8554872
RGD:7240710
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psmb4 proteasome subunit beta 4 JBrowse link 2 196,043,546 196,046,320 RGD:8554872
RGD:7240710
G Psmb9 proteasome subunit beta 9 JBrowse link 20 3,973,424 3,978,845 RGD:8554872
RGD:7240710
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem173 transmembrane protein 173 JBrowse link 18 28,529,537 28,535,828 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          Hereditary Autoinflammatory Diseases 97
            AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS 1
            Autoinflammation with Infantile Enterocolitis 1
            Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
            Behcet's disease + 70
            Cryopyrin-Associated Periodic Syndromes + 8
            Deficiency of Interleukin-1 Receptor Antagonist 1
            JMP syndrome 2
            PFAPA Syndrome 1
            PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 1
            PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 2
            Periodic Fever, Menstrual Cycle-Dependent 1
            STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 1
            autosomal dominant familial periodic fever 1
            familial Mediterranean fever + 20
            mevalonic aciduria 4
            otulipenia 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Genetic Skin Diseases 580
              Hereditary Autoinflammatory Diseases 97
                AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS 1
                Autoinflammation with Infantile Enterocolitis 1
                Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
                Behcet's disease + 70
                Cryopyrin-Associated Periodic Syndromes + 8
                Deficiency of Interleukin-1 Receptor Antagonist 1
                JMP syndrome 2
                PFAPA Syndrome 1
                PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 1
                PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 2
                Periodic Fever, Menstrual Cycle-Dependent 1
                STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 1
                autosomal dominant familial periodic fever 1
                familial Mediterranean fever + 20
                mevalonic aciduria 4
                otulipenia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.