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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:fibromyalgia
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Accession:DOID:631 term browser browse the term
Definition:A common nonarticular rheumatic syndrome characterized by myalgia and multiple points of focal muscle tenderness to palpation (trigger points). Muscle pain is typically aggravated by inactivity or exposure to cold. This condition is often associated with general symptoms, such as sleep disturbances, fatigue, stiffness, HEADACHES, and occasionally DEPRESSION. There is significant overlap between fibromyalgia and the chronic fatigue syndrome (FATIGUE SYNDROME, CHRONIC). Fibromyalgia may arise as a primary or secondary disease process. It is most frequent in females aged 20 to 50 years. (From Adams et al., Principles of Neurology, 6th ed, p1494-95)
Synonyms:exact_synonym: Diffuse Myofascial Pain Syndrome;   Fibromyalgia Fibromyositis Syndrome;   Fibromyalgia-Fibromyositis Syndromes;   Fibromyalgias;   Fibrositides;   Fibrositis;   Muscular Rheumatism;   Primary Fibromyalgia;   Primary Fibromyalgias;   Secondary Fibromyalgia;   Secondary Fibromyalgias
 primary_id: MESH:D005356;   RDO:0005604
 xref: ICD10CM:M79.1;   ICD10CM:M79.7;   NCI:C50566;   NCI:C87497
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
fibromyalgia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO protein:decreased activity:mononuclear cell: RGD PMID:22532869 RGD:9479066 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:decreased expression:plasma RGD PMID:19924498 RGD:14995946 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Comt catechol-O-methyltransferase severity ISO DNA:polymorphism:cds:p.V158M(human) RGD PMID:24762091 RGD:13450944 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO protein:increased expression:serum (human) RGD PMID:10341365 RGD:8549787 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
erythema nodosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cfb complement factor B ISO associated with Leprosy RGD PMID:2783924 RGD:7421527 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Behcet Syndrome;DNA:deletion:: (human) RGD PMID:22766250 RGD:7794848 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Lta lymphotoxin alpha ISO associated with Sarcoidosis;DNA:polymorphism:intron RGD PMID:19225544 RGD:8548773 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:multiple (human) RGD PMID:12198697 RGD:7364926
G Tnf tumor necrosis factor susceptibility ISO associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) RGD PMID:12198697 RGD:7364926 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) RGD PMID:24880677 RGD:13217417 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
nodular nonsuppurative panniculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3259592, PMID:6982619 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
otulipenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME ClinVar
OMIM
PMID:27523608, PMID:27559085 NCBI chr 2:80,267,724...80,293,204
Ensembl chr 2:80,269,587...80,293,181
JBrowse link
Subcutaneous Panniculitis-like T-Cell Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Havcr2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma
CTD
OMIM
ClinVar
PMID:25741868, PMID:30374066, PMID:30792187 NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
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
        muscular disease 1223
          fibromyalgia 14
            panniculitis + 10
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  myopathy 686
                    myositis 78
                      fibromyalgia 14
                        panniculitis + 10
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.