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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:Familial Behcet-Like Autoinflammatory Syndrome
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Accession:DOID:9005986 term browser browse the term
Synonyms:xref: OMIM:PS616744



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Familial Behcet-Like Autoinflammatory Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abracl ABRA C-terminal like ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,654,951...12,665,143
Ensembl chr 1:12,654,838...12,665,207
JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Aldh8a1 aldehyde dehydrogenase 8 family, member A1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:16,183,940...16,203,385
Ensembl chr 1:16,183,940...16,203,385
JBrowse link
G Arfgef3 ARFGEF family member 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:13,245,578...13,404,319
Ensembl chr 1:13,244,830...13,404,084
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832
JBrowse link
G Ccdc28a coiled-coil domain containing 28A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,857,668...12,872,944
Ensembl chr 1:12,857,666...12,873,003
JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897
JBrowse link
G Ect2l epithelial cell transforming 2 like ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,775,705...12,857,538
Ensembl chr 1:12,778,922...12,855,449
JBrowse link
G Gje1 gap junction protein, epsilon 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:9,085,789...9,088,204
Ensembl chr 1:9,086,348...9,088,138
JBrowse link
G Hbs1l HBS1-like translational GTPase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:16,092,529...16,170,082
Ensembl chr 1:16,092,547...16,170,074
JBrowse link
G Hebp2 heme binding protein 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:13,194,982...13,201,777
Ensembl chr 1:13,194,982...13,201,777
JBrowse link
G Heca hdc homolog, cell cycle regulator ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,525,445...12,575,358
Ensembl chr 1:12,525,135...12,576,427
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
JBrowse link
G Il20ra interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,424,215...14,494,226
Ensembl chr 1:14,451,228...14,493,602
JBrowse link
G Il22ra2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,353,736...14,377,844
Ensembl chr 1:14,364,489...14,377,844
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
JBrowse link
G Map7 microtubule-associated protein 7 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,910,433...15,037,574
Ensembl chr 1:14,910,551...15,037,574
JBrowse link
G Mtfr2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:15,123,232...15,138,632
Ensembl chr 1:15,070,894...15,148,832
JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
JBrowse link
G Nhsl1 NHS-like 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,956,525...13,188,580
Ensembl chr 1:12,956,021...13,187,547
JBrowse link
G Nmbr neuromedin B receptor ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:9,115,033...9,146,081
Ensembl chr 1:9,134,889...9,145,462
JBrowse link
G Olig3 oligodendrocyte transcription factor 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,081,259...14,083,336
Ensembl chr 1:14,081,328...14,082,149
JBrowse link
G Pde7b phosphodiesterase 7B ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:15,174,001...15,493,267
Ensembl chr 1:15,182,704...15,492,900
JBrowse link
G Perp p53 apoptosis effector related to PMP22 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:13,542,067...13,554,514
Ensembl chr 1:13,542,067...13,554,511
JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
JBrowse link
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,697,742...12,775,562
Ensembl chr 1:12,697,747...12,775,561
JBrowse link
G Slc35d3 solute carrier family 35, member D3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:14,565,482...14,573,581
Ensembl chr 1:14,569,687...14,573,159
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:24728327 PMID:25741868 PMID:26642243 PMID:28492532 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
JBrowse link
G Txlnb taxilin beta ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:12,404,845...12,449,977
Ensembl chr 1:12,404,859...12,449,975
JBrowse link
G Vta1 vesicle trafficking 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like ClinVar PMID:25741868 NCBI chr 1:9,032,861...9,080,635
Ensembl chr 1:9,032,335...9,080,635
JBrowse link
Autoinflammatory Disease, Familial, Behcet-Like-3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 More... NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 OMIM
ClinVar
PMID:25741868 PMID:27932483 PMID:34326534 PMID:35266071 NCBI chr  X:127,587,401...127,639,063
Ensembl chr  X:127,590,650...127,630,200
JBrowse link
familial Behcet-like autoinflammatory syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfaip3 TNF alpha induced protein 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like 1 | ClinVar Annotator: match by term: TNFAIP3-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24728327 PMID:25741868 PMID:26642243 PMID:28492532 PMID:29241730 More... NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        Familial Behcet-Like Autoinflammatory Syndrome 32
          AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 1
          Autoinflammatory Disease, Familial, Behcet-Like-3 1
          familial Behcet-like autoinflammatory syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          primary immunodeficiency disease 4146
            Familial Behcet-Like Autoinflammatory Syndrome 32
              AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 1
              Autoinflammatory Disease, Familial, Behcet-Like-3 1
              familial Behcet-like autoinflammatory syndrome 1 1
paths to the root