{"orpha":728656,"name":"Bleeding diathesis due to thromboxane A2 receptor variants","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bleeding diathesis due to TBXA2R variants"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-728656/","orphanet_url":"https://www.orpha.net/en/disease/detail/728656","names":{"fr":{"name":"Troubles hémorragiques dus à des variants du récepteur du thromboxane A2","synonyms":["Troubles hémorragiques dus à des variants de TBXA2R"]},"de":{"name":"Hämorrhagische Diathese durch Thromboxan-A2-Rezeptor-Varianten","synonyms":["Blutungsdiathese durch TBXA2R-Varianten"]},"es":{"name":"Diátesis hemorrágica por variantes del receptor de tromboxano A2","synonyms":["Diátesis hemorrágica por variantes del receptor TBXA2R"]},"it":{"name":"Diatesi emorragica da mutazioni del recettore del trombossano A2","synonyms":["Diatesi emorragica da mutazioni di TBXA2R"]},"nl":{"name":"Bloedingsdiathese door varianten van tromboxaan A2-receptor","synonyms":["Hemorragische diathese door TBXA2R-varianten","Bloedingsdiathese door TBXA2R-varianten"]},"pt":{"name":"Bleeding diathesis due to thromboxane A2 receptor variants"},"pl":{"name":"Bleeding diathesis due to thromboxane A2 receptor variants","synonyms":["Bleeding diathesis due to TBXA2R variants"]},"cs":{"name":"Bleeding diathesis due to thromboxane A2 receptor variants","synonyms":["Bleeding diathesis due to TBXA2R variants"]}},"xrefs":[{"source":"OMIM","code":"614009","qualifier":"BTNT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":220443,"name":"OBSOLETE: Bleeding diathesis due to thromboxane synthesis deficiency","status":"inactive"}],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275736,"name":"Rare hemorrhagic disorder due to a qualitative platelet defect","classifications":[156,194]}],"children":[],"genes":[{"symbol":"TBXA2R","name":"thromboxane A2 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31389738[PMID]","hgnc":"11608","ensembl":"ENSG00000006638","omim":"188070","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}