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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:0080944 term browser browse the term
Definition:A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. (DO)
Synonyms:exact_synonym: A20 haploinsufficiency;   AIFBL1;   AISBL;   familial Behcet-like autoinflammatory syndrome 1
 primary_id: OMIM:616744
 alt_id: DOID:9003185
 xref: EFO:0020034
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 1:15,768,047...15,886,744
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 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 1:9,086,425...9,088,138
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 1:12,525,135...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 1:12,698,107...12,775,561
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: A20 haploinsufficiency | ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like | ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like 1 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26642243 PMID:28166811 PMID:28492532 More... 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 1:9,031,226...9,080,654
Ensembl chr 1:9,032,335...9,080,635 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      primary immunodeficiency disease 3867
        familial Behcet-like autoinflammatory syndrome 29
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          monogenic disease 8946
            autosomal genetic disease 7992
              autosomal dominant disease 5476
                familial Behcet-like autoinflammatory syndrome 29
paths to the root