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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.


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 IEP protein:increased expression:serum (human) RGD PMID:9182923 RGD:8662437 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FBN1 fibrillin 1 IDA RGD PMID:10395706 RGD:12910471 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism:cds:HLA-DRB1*04 (human) RGD PMID:12559632 RGD:5147801 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IFNG interferon gamma IEP protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IDA RGD PMID:2968364 RGD:10448928 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C IDA associated with Hypertension, Pulmonary RGD PMID:10555891 RGD:10766447 NCBI chr 6:34,757,505...34,773,857
Ensembl chr 6:34,757,505...34,773,857 		JBrowse link
G TLR3 toll like receptor 3 ISO RGD PMID:16453294 RGD:5129221 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073 		JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:serum: RGD PMID:19684145 RGD:8142347 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      mixed connective tissue disease 8
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Immune & Inflammatory Diseases 6729
        immune system disease 5892
          primary immunodeficiency disease 5019
            autoimmune disease 2537
              autoimmune disease of musculoskeletal system 1027
                mixed connective tissue disease 8
paths to the root