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
Accession: DOID:0080944
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 .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:29241730 PMID:30810840 PMID:32666380 More...
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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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
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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
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