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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: APS;   Anti Phospholipid Antibody Syndrome;   Antiphospholipid Antibody Syndrome;   Hughes syndrome;   anti phospholipid syndrome;   antiphospholipid antibody syndromes
 primary_id: MESH:D016736
 xref: EFO:0002689;   GARD:5824;   ICD10CM:D68.61;   NCI:C61283
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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 Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Crp C-reactive protein ISO RGD PMID:17014014 RGD:6907402 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Pf4 platelet factor 4 ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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 Ppbp pro-platelet basic protein ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130
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 21128
    syndrome 10832
      antiphospholipid syndrome 13
        Familial Antiphospholipid Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Immune & Inflammatory Diseases 5564
        immune system disease 4771
          primary immunodeficiency disease 4144
            autoimmune disease 2319
              autoimmune disease of cardiovascular system 145
                antiphospholipid syndrome 13
                  Familial Antiphospholipid Syndrome 0
paths to the root