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mixed connective tissue disease - 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:mixed connective tissue disease
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Accession:DOID:3492 term browser browse the term
Definition:A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. (DO)
Synonyms:exact_synonym: MCTD;   Sharp Syndrome;   connective tissue disease overlap syndrome;   mixed collagen vascular disease
 primary_id: MESH:D008947
 xref: EFO:0007374;   GARD:7051;   ICD10CM:M35.1;   NCI:C84892
For additional species annotation, visit the Alliance of Genome Resources.


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show annotations for term's descendants           Sort by:
mixed connective tissue disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAS Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO RGD PMID:2968364 RGD:10448928 NCBI chr17:33,072,104...33,094,847
Ensembl chr17:33,080,407...33,094,602
JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C ISO associated with Hypertension, Pulmonary RGD PMID:10555891 RGD:10766447 NCBI chr 7:30,708,243...30,723,480
Ensembl chr 7:30,708,332...30,724,045
JBrowse link
G TLR3 toll like receptor 3 ISO RGD PMID:16453294 RGD:5129221 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15423
    syndrome 10412
      mixed connective tissue disease 7
Path 2
Term Annotations click to browse term
  disease 15423
    disease of anatomical entity 15092
      Immune & Inflammatory Diseases 5153
        immune system disease 4565
          primary immunodeficiency disease 3986
            autoimmune disease 2022
              autoimmune disease of musculoskeletal system 897
                mixed connective tissue disease 7
paths to the root