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Blau syndrome - Ontology Report - Rat Genome Database

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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:Blau syndrome
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Accession:DOID:0050678 term browser browse the term
Definition:A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. (DO)
Synonyms:exact_synonym: ACUG;   BLAUS;   Familial Juvenile Systemic Granulomatosis;   Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial;   Jabs syndrome;   arthrocutaneouveal granulomatosis;   familial granulomatosis, Blau type;   pediatric granulomatous arthritis;   synovitis granulomatous with uveitis and cranial neuropathies
 primary_id: MESH:C538157
 alt_id: MIM:186580
 xref: GARD:304;   NCI:C116794

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Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chrNW_004624757:5,895,912...5,953,485 JBrowse link
G G CYLD CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr 5:36,541,022...36,600,874
Ensembl chr 5:36,541,764...36,595,417 		JBrowse link
G P CYLD CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr 6:34,058,091...34,121,939
Ensembl chr 6:34,059,081...34,121,264 		JBrowse link
G S Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chrNW_004936475:3,750,917...3,812,118
Ensembl chrNW_004936475:3,750,882...3,812,118 		JBrowse link
G D CYLD CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr 2:64,561,684...64,628,829
Ensembl chr 2:64,562,503...64,628,175 		JBrowse link
G B CYLD CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr16:31,004,393...31,064,546
Ensembl chr16:49,882,751...49,942,629 		JBrowse link
G C Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chrNW_004955433:8,788,867...8,845,925
Ensembl chrNW_004955433:8,788,655...8,845,925 		JBrowse link
G R Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
G M Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573 		JBrowse link
G H CYLD CYLD lysine 63 deubiquitinase IAGP ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G H CYLD-AS1 CYLD antisense RNA 1 IAGP ClinVar Annotator: match by term: Blau syndrome
ClinVar Annotator: match by term: Jabs syndrome
ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome		 ClinVar PMID:11385576 PMID:11385577 PMID:11425413 PMID:11910337 PMID:12019468 More... NCBI chr16:50,727,415...50,742,747
Ensembl chr16:50,727,417...50,742,951 		JBrowse link
G N Nod2 nucleotide binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome
DNA:snp:cds:p.E383K (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)		 OMIM
ClinVar
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040 RGD:8158051 RGD:8547515 RGD:8547518 NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103 		JBrowse link
G G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383K (human)		 OMIM
ClinVar
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040 RGD:8158051 RGD:8547515 RGD:8547518 NCBI chr 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499 		JBrowse link
G P NOD2 nucleotide binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383K (human)		 OMIM
ClinVar
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040 RGD:8158051 RGD:8547515 RGD:8547518 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534 		JBrowse link
G S Nod2 nucleotide binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383G (human)		 OMIM
ClinVar
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040 RGD:8158051 RGD:8547515 RGD:8547518 NCBI chrNW_004936475:3,708,069...3,742,845
Ensembl chrNW_004936475:3,713,362...3,745,982 		JBrowse link
G D NOD2 nucleotide binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383K (human)
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383G (human)		 OMIM
ClinVar
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040 RGD:8158051 RGD:8547515 RGD:8547518 NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232 		JBrowse link
G B NOD2 nucleotide binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383K (human)		 OMIM
ClinVar
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040 RGD:8158051 RGD:8547515 RGD:8547518 NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773 		JBrowse link
G C Nod2 nucleotide binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383K (human)		 OMIM
ClinVar
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040 RGD:8158051 RGD:8547515 RGD:8547518 NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710 		JBrowse link
G R Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)		 OMIM
ClinVar
CTD
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G M Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383G (human)
DNA:snp:cds:p.E383K (human)
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)		 OMIM
ClinVar
CTD
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040, RGD:8158051, RGD:8547515, RGD:8547518 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G H NOD2 nucleotide binding oligomerization domain containing 2 susceptibility IAGP
EXP		 DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome
ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383K (human)
DNA:snp:cds:p.E383G (human)		 ClinVar
CTD
OMIM
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040, RGD:8547518, RGD:8547515, RGD:8158051 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G N Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chrNW_004624757:5,572,510...5,587,623
Ensembl chrNW_004624757:5,572,528...5,587,617 		JBrowse link
G G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr 5:36,928,711...36,944,158
Ensembl chr 5:36,927,990...36,943,630 		JBrowse link
G P SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704 		JBrowse link
G S Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413 		JBrowse link
G D SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521 		JBrowse link
G B SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819 		JBrowse link
G C Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chrNW_004955433:9,146,074...9,161,171
Ensembl chrNW_004955433:9,144,748...9,161,171 		JBrowse link
G R Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G M Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790 		JBrowse link
G H SALL1 spalt like transcription factor 1 IAGP ClinVar Annotator: match by term: Blau syndrome ClinVar PMID:28492532 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      musculoskeletal system disease 96321
        connective tissue disease 68438
          synovitis 76
            Blau syndrome 31
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Immune & Inflammatory Diseases 73737
        immune system disease 64599
          hypersensitivity reaction disease 1901
            hypersensitivity reaction type IV disease 1634
              sarcoidosis 850
                Early-Onset Sarcoidosis 31
                  Blau syndrome 31
paths to the root