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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: Reimann periodic disease;   Siegal Cattan Mamou disease;   hereditary autoinflammation disease;   hereditary autoinflammation diseases;   hereditary autoinflammatory disease;   hereditary periodic fever syndromes;   hereditary recurrent fever;   hereditary recurrent fevers
 primary_id: MESH:D056660
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hereditary Autoinflammatory Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRC4 NLR family CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217959 PMID:25217960 NCBI chr 3:107,358,117...107,389,557 JBrowse link
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642243 NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822
JBrowse link
Autoinflammation with Arthritis and Dyskeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP1 NLR family pyrin domain containing 1 ISO OMIM NCBI chr12:51,479,968...51,495,540 JBrowse link
AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPK1 receptor interacting serine/threonine kinase 1 ISO OMIM NCBI chr 7:1,841,143...1,880,705
Ensembl chr 7:1,841,236...1,880,699
JBrowse link
Autoinflammation with Infantile Enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,520,641...107,533,504
Ensembl chr 3:107,520,642...107,533,496
JBrowse link
G MEMO1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,542,045...107,657,195
Ensembl chr 3:107,542,095...107,658,455
JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO OMIM NCBI chr 3:107,358,117...107,389,557 JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,387,875...107,426,330
Ensembl chr 3:107,387,860...107,426,337
JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,810...107,508,927
JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,839,964...107,918,350
JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,986,528...108,080,151
JBrowse link
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLCG2 phospholipase C gamma 2 ISO OMIM NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060
JBrowse link
Autoinflammation, Immunde Dysregulation, and Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A3 collagen type IX alpha 3 chain ISO Oculoskeletal dysplasia 1 OMIA PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 PMID:31415586 PMID:31595625 NCBI chr17:62,074,108...62,094,228
Ensembl chr17:62,075,125...62,093,540
JBrowse link
G JAK1 Janus kinase 1 ISO OMIM NCBI chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,106...147,567,179
JBrowse link
autosomal dominant familial periodic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO OMIM NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 no_association
susceptibility
ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15045629 PMID:15961928 RGD:7829810 RGD:8142349 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Behcet Syndrome
ClinVar Annotator: match by term: Behcet disease
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar PMID:28492532 PMID:28814775 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,434...69,554,661
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
JBrowse link
G APOA1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,393...44,218,978
JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism
protein:decreased activity:erythrocyte:
CTD
RGD
PMID:12074830 PMID:17206395 RGD:9068907 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 susceptibility ISO protein:increased expression:plasma (human)
DNA:snp:promoter:g.-2518A>G (human)
RGD PMID:12712358 PMID:19782713 RGD:8548882 RGD:8549488 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,220...29,233,960
JBrowse link
G CCR5 chemokine (C-C motif) receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
protein:increased expression:blood, T cell (human)
RGD PMID:15009175 PMID:15501397 PMID:17067435 RGD:4892106 RGD:8551814 RGD:8551827 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,902
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CFB complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr 7:24,034,077...24,040,523 JBrowse link
G CPB2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,244
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,780,105...58,809,755
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,232...81,485,055
JBrowse link
G FAS Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175
G ICAM1 intercellular adhesion molecule 1 no_association
susceptibility
ISO DNA:SNP:exon:p.R241G (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.K469E (human)
RGD
CTD
PMID:8712863 PMID:10792421 PMID:11409120 PMID:12074830 PMID:12808331 RGD:8158115 RGD:8158123 RGD:8547575 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IFNG interferon gamma ISO associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:
RGD PMID:2154346 PMID:21334264 RGD:8142356 RGD:8142377 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453
JBrowse link
G IL10 interleukin 10 susceptibility
onset
disease_progression
treatment
ISO DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, serum
RGD
CTD
PMID:15980236 PMID:20622878 PMID:20622879 PMID:21506890 PMID:26654556 PMID:29294320 PMID:29719061 RGD:14975131 RGD:14975149 RGD:14975256 RGD:1598628 RGD:7364843 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL18 interleukin 18 no_association
susceptibility
ISO DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD PMID:14727452 PMID:15234532 PMID:16273766 PMID:17055358 PMID:21532063 RGD:4889844 RGD:8655897 RGD:8655910 RGD:8655926 RGD:8655927 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213
G IL2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,344...19,489,152
JBrowse link
G IL23R interleukin 23 receptor susceptibility ISO DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD PMID:20375120 PMID:22483685 RGD:8549550 RGD:8549565 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,577
JBrowse link
G IL4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
JBrowse link
G ITGAL integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 3:17,817,785...17,858,057
Ensembl chr 3:17,817,011...17,858,057
JBrowse link
G ITGB2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,954...207,544,108
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213
G MBL2 mannose binding lectin 2 susceptibility
severity
ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)
RGD PMID:15693089 PMID:15730518 RGD:1582154 RGD:1582155 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:27156371 PMID:30366049 RGD:21409751 RGD:25671481 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:17949555 PMID:22116092 RGD:8547820 RGD:8657044 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility
no_association
ISO DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
ClinVar Annotator: match by term: Behcet's syndrome
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
RGD
ClinVar
PMID:15515785 PMID:19748964 PMID:28492532 RGD:13204711 RGD:8158059 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
no_association
ISO DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D
DNA:duplication:intron:g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D (human)
RGD PMID:11908569 PMID:15705632 PMID:16463158 PMID:21957880 RGD:7771576 RGD:7771577 RGD:7775048 RGD:7775050 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:28492532 NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,756...57,146,754
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222 PMID:22396730 RGD:6484733 RGD:7829745 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099
JBrowse link
G SERPINE1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)
CTD
RGD
PMID:12074830 PMID:18341631 RGD:8547693 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SLA-DMA SLA-DM alpha chain no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr 7:25,133,494...25,137,928
Ensembl chr 7:25,133,214...25,138,348
JBrowse link
G SLA-DMB MHC class II, DM beta no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr 7:25,119,278...25,125,089
Ensembl chr 7:25,117,685...25,125,847
JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G STAT3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)
RGD PMID:22205606 PMID:23127549 RGD:6483021 RGD:8694309 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human)
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20438790 PMID:23001997 PMID:23291587 RGD:8661713 RGD:8661718 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,653,861...95,763,448
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TLR2 toll like receptor 2 no_association
susceptibility
ISO protein,mRNA:increased expression:peripheral blood mononuclear cell
DNA:polymorphism: :12408G>A(human)
mRNA:increased expression:intestine:
DNA:SNPs: : rs2289318,rs3804099(human)
RGD PMID:18336589 PMID:19796535 PMID:23908180 PMID:24255044 RGD:8552883 RGD:8552885 RGD:8552888 RGD:8552915 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
G TLR3 toll like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,966,040...47,058,734
JBrowse link
G TLR4 toll like receptor 4 susceptibility
no_association
ISO mRNA:increased expression:mononulcear cell:
DNA:SNP:3'UTR: rs7037117(human)
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)
RGD PMID:18234118 PMID:18336589 PMID:18408113 PMID:19796535 RGD:7777175 RGD:7777176 RGD:8552888 RGD:8552915 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TNF tumor necrosis factor no_association ISO DNA:SNP:promoter
DNA:SNP:promoter:-308G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
protein:increased expression:serum
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
RGD PMID:12632436 PMID:12770792 PMID:14600787 PMID:15875188 PMID:20601837 PMID:21334264 RGD:12904036 RGD:12904040 RGD:12904048 RGD:7394759 RGD:7401213 RGD:8142356 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum
ClinVar Annotator: match by term: Behcet's syndrome
RGD
ClinVar
PMID:14600787 PMID:28492532 PMID:28814775 RGD:7401213 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
G VDR vitamin D receptor no_association ISO DNA:SNP: :rs1544410 (human)
DNA:SNP:exon:rs2228570 (human)
RGD PMID:21820934 RGD:8158077 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G VIM vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,172
JBrowse link
G VWF von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,098
JBrowse link
CINCA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO OMIM NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,242...56,977,234
JBrowse link
Cold Hypersensitivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPA1 transient receptor potential cation channel subfamily A member 1 ISO associated with Peripheral Nerve Injuries; RGD PMID:21068322 RGD:10043615 NCBI chr 4:63,493,374...63,558,486
Ensembl chr 4:63,306,738...63,558,485
JBrowse link
Cryopyrin-Associated Periodic Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL17A interleukin 17A treatment ISO RGD PMID:21637346 RGD:9068438 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:16899778 RGD:8549803
G LOC100515362 olfactory receptor 2B11 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 PMID:29611406 NCBI chr 2:56,862,025...56,862,981
Ensembl chr 2:56,862,025...56,862,978
JBrowse link
G MME membrane metalloendopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12928894 NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045
JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:107,358,117...107,389,557 JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome
ClinVar Annotator: match by term: COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL
ClinVar Annotator: match by term: Familial cold urticaria
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3
CTD
ClinVar
PMID:49161 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:12483741 PMID:12522564 PMID:12928894 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15334500 PMID:15593220 PMID:15724022 PMID:15801036 PMID:16081838 PMID:16100350 PMID:16802372 PMID:16920754 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17284928 PMID:17393462 PMID:17509468 PMID:17513575 PMID:17576681 PMID:18063752 PMID:18080732 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20131254 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:21637346 PMID:21702021 PMID:22128899 PMID:22193915 PMID:22279087 PMID:22403613 PMID:22512814 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22661645 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24326009 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25217959 PMID:25417688 PMID:25584041 PMID:25586466 PMID:25596455 PMID:25619352 PMID:25639832 PMID:25730877 PMID:25732894 PMID:25741868 PMID:25766347 PMID:25821352 PMID:25866490 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26590045 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27134254 PMID:27191192 PMID:27692610 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28079503 PMID:28137891 PMID:28166811 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28501347 PMID:28692792 PMID:28847925 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29163488 PMID:29239927 PMID:29322034 PMID:29611406 PMID:29922587 PMID:29977033 PMID:29988644 PMID:30214525 PMID:30311386 PMID:30338413 PMID:30407166 PMID:30431487 PMID:30808881 PMID:32082075 PMID:32199921 NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,242...56,977,234
JBrowse link
G PLCG2 phospholipase C gamma 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060
JBrowse link
G SLC6A5 solute carrier family 6 member 5 ISO Hyperekplexia (Startle disease) OMIA PMID:6524730 PMID:21420493 PMID:30847549 NCBI chr 2:38,767,447...38,826,891
Ensembl chr 2:38,770,648...38,826,726
JBrowse link
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RN interleukin 1 receptor antagonist ISO OMIM
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Osteomyelitis, sterile multifocal, with periostitis and pustulosis ClinVar NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,508,016...64,558,057
JBrowse link
familial cold autoinflammatory syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 PMID:28492532 NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,633...56,424,295
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15593220 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26467025 PMID:26531310 PMID:27994174 PMID:28492532 PMID:28692792 PMID:29159471 PMID:29922587 PMID:30407166 PMID:30808881 NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,242...56,977,234
JBrowse link
familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO OMIM NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,242...56,977,234
JBrowse link
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYADM myeloid associated differentiation marker ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 6:56,236,306...56,278,577
Ensembl chr 6:56,236,306...56,278,582
JBrowse link
G NLRP12 NLR family pyrin domain containing 12 ISO OMIM NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,633...56,424,295
JBrowse link
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 6:56,213,479...56,235,683
Ensembl chr 6:56,213,483...56,234,656
JBrowse link
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLCG2 phospholipase C gamma 2 ISO OMIM NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060
JBrowse link
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRC4 NLR family CARD domain containing 4 ISO OMIM NCBI chr 3:107,358,117...107,389,557 JBrowse link
familial Mediterranean fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 treatment
susceptibility
no_association
ISO DNA:SNP: :3435C>T(human)
DNA:SNP,haplotype:exon:3435C>T(human)
RGD PMID:17610314 PMID:23408444 PMID:24773260 RGD:39456094 RGD:39456095 RGD:39456097 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility ISO DNA:insertion/deletion:intron 16: RGD PMID:24680475 RGD:40400709 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G CAT catalase disease_progression ISO RGD PMID:22135646 RGD:9480233 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:blood plasma (human) RGD PMID:16721492 RGD:40818434 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G IGF1 insulin like growth factor 1 disease_progression ISO RGD PMID:21428190 RGD:5508806 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:16273770 RGD:8655877 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:serum RGD PMID:22384525 RGD:6482659
G MEFV MEFV innate immuity regulator, pyrin ISO OMIM NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human) RGD PMID:28543752 RGD:38501050 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Periodic fever syndrome ClinVar PMID:28492532 NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,633...56,424,295
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 severity ISO DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) RGD PMID:22244368 RGD:13204709 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
G POMC proopiomelanocortin ISO protein: decreassed expression: plasma: ACTH RGD PMID:21428190 RGD:5508806 NCBI chr 3:113,661,712...113,668,558 JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:22736074 RGD:13207415 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SHAS2 hyaluronan synthase 2 ISO Periodic Fever Syndrome OMIA PMID:1606750 PMID:20080661 PMID:20178474 PMID:21437276 PMID:21718367 PMID:24130694 PMID:25040095 PMID:27107962 PMID:28472921 NCBI chr 4:17,583,154...17,613,524
Ensembl chr 4:17,596,472...17,675,586
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:blood RGD PMID:17067436 RGD:5685013 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:19445990 RGD:7794686 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,073...64,331,909
JBrowse link
Familial Mediterranean Fever, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEFV MEFV innate immuity regulator, pyrin ISO OMIM NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Familial mediterranean fever, autosomal dominant ClinVar PMID:14559814 PMID:16189274 PMID:17483355 PMID:18564920 PMID:20670955 PMID:22703879 PMID:24033266 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 PMID:28619094 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
JMP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMA3 proteasome 20S subunit alpha 3 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331 PMID:26524591 NCBI chr 1:187,342,231...187,371,149
Ensembl chr 1:187,343,507...187,372,215
JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr 4:97,835,544...97,837,909
Ensembl chr 4:97,835,546...97,837,921
JBrowse link
G PSMB8 proteasome 20S subunit beta 8 ISO OMIM NCBI chr 7:25,058,456...25,061,666
Ensembl chr 7:25,053,132...25,073,046
JBrowse link
mevalonic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRP C-reactive protein, pentraxin-related disease_progression ISO RGD PMID:7780142 RGD:9585642 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,225...84,402,956
JBrowse link
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D
ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:41,357,587...41,371,374
Ensembl chr14:41,357,589...41,373,208
JBrowse link
G MVK mevalonate kinase ISO OMIM NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,671...41,362,974
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
Muckle-Wells syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:22146561 RGD:6906895
G NLRP3 NLR family pyrin domain containing 3 ISO OMIM NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,242...56,977,234
JBrowse link
otulipenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTULIN OTU deubiquitinase with linear linkage specificity ISO OMIM NCBI chr16:4,063,037...4,097,112
Ensembl chr16:4,063,071...4,097,095
JBrowse link
Periodic Fever, Menstrual Cycle-Dependent term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTR1A 5-hydroxytryptamine receptor 1A ISO OMIM NCBI chr16:42,479,812...42,484,365 JBrowse link
PFAPA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOD2 nucleotide binding oligomerization domain containing 2 ISO DNA:mutations:cds RGD PMID:21914217 RGD:13204855 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMP proteasome maturation protein ISO OMIM NCBI chr11:5,953,691...5,968,447
Ensembl chr11:5,953,743...5,975,260
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMB4 proteasome 20S subunit beta 4 ISO OMIM NCBI chr 4:97,835,544...97,837,909
Ensembl chr 4:97,835,546...97,837,921
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO OMIM NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,055,594...25,078,594
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMG2 proteasome assembly chaperone 2 ISO OMIM NCBI chr 6:96,879,009...96,893,551
Ensembl chr 6:96,878,139...96,893,474
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMB10 proteasome 20S subunit beta 10 ISO OMIM NCBI chr 6:28,544,910...28,547,609
Ensembl chr 6:28,540,807...28,548,152
JBrowse link
STING-associated vasculopathy with onset in infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STING1 stimulator of interferon response cGAMP interactor 1 ISO OMIM NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
JBrowse link
YAO SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOD2 nucleotide binding oligomerization domain containing 2 ISO OMIM NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13598
    disease of anatomical entity 13257
      Immune & Inflammatory Diseases 3240
        Inflammation 1916
          Hereditary Autoinflammatory Diseases 110
            AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY 1
            Autoinflammation with Arthritis and Dyskeratosis 1
            Autoinflammation with Infantile Enterocolitis 7
            Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
            Autoinflammation, Immunde Dysregulation, and Eosinophilia 2
            Behcet's disease 67
            Cryopyrin-Associated Periodic Syndromes + 12
            Deficiency of Interleukin-1 Receptor Antagonist 2
            PFAPA Syndrome 1
            Periodic Fever, Menstrual Cycle-Dependent 1
            Proteasome-Associated Autoinflammatory Syndromes + 7
            STING-associated vasculopathy with onset in infancy 1
            YAO SYNDROME 1
            autosomal dominant familial periodic fever 2
            familial Mediterranean fever + 21
            mevalonic aciduria 5
            otulipenia 1
Path 2
Term Annotations click to browse term
  disease 13598
    disease of anatomical entity 13257
      nervous system disease 11025
        sensory system disease 5090
          skin disease 2671
            Genetic Skin Diseases 968
              Hereditary Autoinflammatory Diseases 110
                AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY 1
                Autoinflammation with Arthritis and Dyskeratosis 1
                Autoinflammation with Infantile Enterocolitis 7
                Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated 1
                Autoinflammation, Immunde Dysregulation, and Eosinophilia 2
                Behcet's disease 67
                Cryopyrin-Associated Periodic Syndromes + 12
                Deficiency of Interleukin-1 Receptor Antagonist 2
                PFAPA Syndrome 1
                Periodic Fever, Menstrual Cycle-Dependent 1
                Proteasome-Associated Autoinflammatory Syndromes + 7
                STING-associated vasculopathy with onset in infancy 1
                YAO SYNDROME 1
                autosomal dominant familial periodic fever 2
                familial Mediterranean fever + 21
                mevalonic aciduria 5
                otulipenia 1
paths to the root