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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:Inflammation of the SYNOVIAL MEMBRANE.
Synonyms:exact_synonym: Synovial Hypertrophies;   Synovial Hypertrophy;   Synovial Thickening;   Synovial Thickenings;   Synovitides
 primary_id: MESH:D013585;   RDO:0001342
 xref: 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25194622 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G RT1-M5 RT1 class Ib, locus M5 susceptibility ISO associated with Hemophilia;DNA:polymorphisms:cds:HLA-B*2708(human) RGD PMID:12889998 RGD:10755578 NCBI chr20:2,038,158...2,040,422
Ensembl chr20:2,038,158...2,040,422
JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility ISO ClinVar Annotator: match by term: Blau syndrome
ClinVar Annotator: match by term: Jabs syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sarcoidosis, early-onset
ClinVar Annotator: match by OMIM:186580
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
PMID:7825454, PMID:9124059, PMID:11087742, PMID:11385576, PMID:11385577, PMID:11425413, PMID:11528384, PMID:11875755, PMID:11910337, PMID:12019468, PMID:12115249, PMID:12512038, PMID:12557156, PMID:12577202, PMID:12626759, PMID:12630966, PMID:14508222, PMID:14522785, PMID:14765395, PMID:15024686, PMID:15044951, PMID:15086578, PMID:15190267, PMID:15198989, PMID:15320482, PMID:15459013, PMID:15554080, PMID:15571588, PMID:15712650, PMID:15770725, PMID:15812565, PMID:15967635, PMID:15998797, PMID:16278823, PMID:16485124, PMID:16804397, PMID:17157607, PMID:17207093, PMID:17393391, PMID:17941079, PMID:17968944, PMID:18056399, PMID:18240302, PMID:18419343, PMID:18489434, PMID:18507017, PMID:18541930, PMID:18718560, PMID:18955195, PMID:19116920, PMID:19467619, PMID:19479836, PMID:19479837, PMID:19713276, PMID:20032092, PMID:20039400, PMID:20084402, PMID:20199415, PMID:20230816, PMID:20565245, PMID:20959815, PMID:21274544, PMID:21335489, PMID:21548950, PMID:21830272, PMID:21914217, PMID:21983784, PMID:22319155, PMID:22470564, PMID:22509093, PMID:22684479, PMID:22926499, PMID:22942351, PMID:23102769, PMID:23334666, PMID:24033266, PMID:24391456, PMID:24583628, PMID:24595243, PMID:24713464, PMID:24803813, PMID:24876985, PMID:24960071, PMID:25093298, PMID:25136265, PMID:25416713, PMID:25429073, PMID:25741868, PMID:25829188, PMID:26070941, PMID:26164256, PMID:26316104, PMID:26500656, PMID:26606664, PMID:27306066, PMID:27339507, PMID:28492532, PMID:28639104, PMID:28814775, PMID:29248579, PMID:29503906, PMID:29697845, PMID:30166421, PMID:19479837, PMID:15812565, PMID:19116920, PMID:11528384 RGD:8547518, RGD:8547515, RGD:8158051, RGD:8158040 NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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 ISO ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:208250
OMIM
ClinVar
CTD
PMID:10545950, PMID:25741868, PMID:29397575, PMID:32860008 NCBI chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
JBrowse link
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Camptodactyly arthropathy coxa vara pericarditis syndrome ClinVar PMID:29397575 NCBI chr13:67,611,685...67,672,833
Ensembl chr13:67,611,708...67,672,827
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          synovitis 6
            Blau syndrome 1
            Eosinophilic Synovitis 0
            Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 0
            camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2
            gonococcal synovitis 0
            tenosynovial giant cell tumor + 0
            villonodular synovitis + 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.