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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:antiphospholipid syndrome
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Accession:DOID:2988 term browser browse the term
Definition:An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). (DO)
Synonyms:exact_synonym: Anti Phospholipid Antibody Syndrome;   Anti Phospholipid Syndrome;   Antiphospholipid Antibody Syndrome;   Antiphospholipid Antibody Syndromes;   Hughes syndrome
 primary_id: MESH:D016736
 xref: GARD:5824;   ICD10CM:D68.61;   NCI:C61283
For additional species annotation, visit the Alliance of Genome Resources.



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antiphospholipid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoh apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
JBrowse link
G Cd4 Cd4 molecule treatment ISO RGD PMID:7914411 RGD:10058961 NCBI chr 4:157,668,878...157,695,366 JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:16188945 RGD:11344980 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Crp C-reactive protein ISO RGD PMID:17014014 RGD:6907402 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Plat plasminogen activator, tissue type ISO RGD PMID:16320350 RGD:1580877 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:28182703 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:25196808 RGD:11099994 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human) RGD PMID:11157139 RGD:5147862 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms: :multiple (human) RGD PMID:11157139 RGD:5147862 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:11157139 RGD:5147862 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      antiphospholipid syndrome 10
        Familial Antiphospholipid Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Immune & Inflammatory Diseases 4036
        immune system disease 3398
          primary immunodeficiency disease 2723
            autoimmune disease 1851
              autoimmune disease of cardiovascular system 108
                antiphospholipid syndrome 10
                  Familial Antiphospholipid Syndrome 0
paths to the root