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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:synovitis
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Accession:DOID:2703 term browser browse the term
Definition:A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. (DO)
Synonyms:exact_synonym: Synovial Hypertrophy;   Synovial Thickening;   Synovial Thickenings;   synovial hypertrophies;   synovitides
 primary_id: MESH:D013585
 xref: EFO:0008997;   GARD:7722;   NCI:C50766
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
synovitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:25194622 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP
EXP		 associated with Hemophilia;DNA:polymorphism:cds:HLA-B*2708(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12648975 PMID:12889998 RGD:10755578 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYLD-AS1 CYLD antisense RNA 1 IAGP ClinVar Annotator: match by term: Blau 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...50,742,815 		JBrowse link
G 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: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:p.E383G (human)
DNA:snp:cds:p.E383K (human)
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)		 ClinVar
CTD
OMIM
RGD		 PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 More... RGD:8158040, RGD:8158051, RGD:8547515, RGD:8547518 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
camptodactyly-arthropathy-coxa vara-pericarditis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRG4 proteoglycan 4 IAGP
EXP		 ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10545950 PMID:25741868 PMID:29397575 PMID:32860008 NCBI chr 1:186,296,273...186,314,567
Ensembl chr 1:186,296,279...186,314,567 		JBrowse link
G TPR translocated promoter region, nuclear basket protein IAGP ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome ClinVar PMID:25741868 PMID:29397575 NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      musculoskeletal system disease 11817
        connective tissue disease 7576
          synovitis 7
            Blau syndrome 2
            Eosinophilic Synovitis 0
            Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 0
            acute synovitis 0
            camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
            gonococcal synovitis 0
            tenosynovial giant cell tumor + 0
            villonodular synovitis + 0
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      musculoskeletal system disease 11817
        connective tissue disease 7576
          bone disease 5734
            bone inflammation disease 1561
              arthropathy 1535
                synovitis 7
                  Blau syndrome 2
                  Eosinophilic Synovitis 0
                  Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 0
                  acute synovitis 0
                  camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
                  gonococcal synovitis 0
                  tenosynovial giant cell tumor + 0
                  villonodular synovitis + 0
paths to the root