loading...| Preferred Name |
antiphospholipid syndrome |
|
| Synonyms |
Antiphospholipid syndrome (disorder) antiphospholipid antibody syndrome antiphospholipid syndrome Hughes syndrome familial lupus anticoagulant lupus anticoagulant, familial |
|
| Definitions |
An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies, including lupus anticoagulant (LAC), anticardiolipin (aCL) antibody, and anti-beta-2glycoprotein I antibody, directed against membrane anionic phospholipids. A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0002689 |
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| creator | ||
| database_cross_reference |
MeSH:D016736 MedDRA:10002817 SNOMEDCT:26843008 NCIt:C61283 Orphanet:80 MESH:D016736 NCIT:C61283 DOID:2988 MONDO:8000010 UMLS:C0085278 GARD:5824 SCTID:26843008 ICD9:279.49 ICD10CM:D68.61 |
|
| definition |
An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies, including lupus anticoagulant (LAC), anticardiolipin (aCL) antibody, and anti-beta-2glycoprotein I antibody, directed against membrane anionic phospholipids. A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease. |
|
| definition_citation |
antiphospholipid syndrome |
|
| exactMatch |
http://identifiers.org/mesh/D016736 http://purl.obolibrary.org/obo/Orphanet_80 http://purl.obolibrary.org/obo/NCIT_C61283 http://purl.bioontology.org/ontology/ICD10CM/D68.61 http://linkedlifedata.com/resource/umls/id/C0085278 |
|
| gwas_trait |
true |
|
| has_exact_synonym |
Antiphospholipid syndrome (disorder) antiphospholipid antibody syndrome antiphospholipid syndrome Hughes syndrome familial lupus anticoagulant |
|
| has_related_synonym |
lupus anticoagulant, familial |
|
| id |
EFO:0002689 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare |
|
| label |
antiphospholipid syndrome |
|
| notation |
EFO:0002689 |
|
| prefLabel |
antiphospholipid syndrome |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0005809 |