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ONTOLOGY REPORT - ANNOTATIONS


Term:Glanzmann's thrombasthenia
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Accession:DOID:2219 term browser browse the term
Definition:A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in response to most agents, especially ADP, and impaired or absent clot retraction. Platelet membranes are deficient in or have a defect in the glycoprotein IIb-IIIa complex (PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX).
Synonyms:exact_synonym: BDPLT2;   BLEEDING DISORDER, PLATELET-TYPE, 2;   Deficiency of GP 2b 3a Complex;   GP IIb IIIa Complex, Deficiency Of;   GT;   Glanzmann Thrombasthenia;   Glanzmann Thrombasthenia, Type A;   Glycoprotein Complex IIb IIIa, Deficiency Of;   Glycoprotein IIb/IIIa defect;   Platelet Fibrinogen Receptor, Deficiency of;   Platelet Glycoprotein 2b 3a Deficiency;   Platelet Glycoprotein IIb IIIa Deficiency;   Thrombasthenia of Glanzmann and Naegeli;   Thrombasthenias;   Thrombocytasthenia;   thrombasthenia
 primary_id: MESH:D013915;   RDO:0002128
 alt_id: OMIA:001000;   OMIM:273800
 xref: GARD:2478;   NCI:C61249;   ORDO:849
For additional species annotation, visit the Alliance of Genome Resources.


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Glanzmann's thrombasthenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:1582297
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:7240710
RGD:8554872
RGD:10755476
RGD:10755480
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:1580496
RGD:8554872
RGD:11554173
RGD:10755474
RGD:7240710
platelet-type bleeding disorder 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:7240710
RGD:8554872
RGD:10766467
RGD:10755470
RGD:10755469
RGD:10755462
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:8554872
RGD:10755470
RGD:10755466
RGD:10755462
RGD:7240710
platelet-type bleeding disorder 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link 3 7,190,721 7,203,444 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      hematopoietic system disease 1426
        hemorrhagic disease 430
          Glanzmann's thrombasthenia 4
            Schlegelberger Grote Syndrome 0
            platelet-type bleeding disorder 16 2
            platelet-type bleeding disorder 17 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      Hemic and Lymphatic Diseases 1704
        hematopoietic system disease 1426
          blood coagulation disease 444
            hemorrhagic disease 430
              blood platelet disease 191
                Glanzmann's thrombasthenia 4
                  Schlegelberger Grote Syndrome 0
                  platelet-type bleeding disorder 16 2
                  platelet-type bleeding disorder 17 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.