Phenotypes for disease #07095 (GT (thrombasthenia, Glanzmann's))

230 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

AscendingPhenotype ID     
Diagnosis/Initial     
Diagnosis/Definite     
Phenotype details     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Owner     
Individual ID     
0000355662 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470775
0000355663 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470776
0000355664 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470777
0000355670 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 18y - - - Johan den Dunnen 00470783
0000355671 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 13y - - - Johan den Dunnen 00470784
0000355672 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 13y - - - Johan den Dunnen 00470785
0000355673 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 3y - - - Johan den Dunnen 00470786
0000355674 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 34y - - - Johan den Dunnen 00470787
0000355675 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 10y - - - Johan den Dunnen 00470788
0000355676 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 4y - - - Johan den Dunnen 00470789
0000355677 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 3y - - - Johan den Dunnen 00470790
0000355678 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 5y - - - Johan den Dunnen 00470791
0000355679 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 3y - - - Johan den Dunnen 00470792
0000355680 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 8y - - - Johan den Dunnen 00470793
0000355681 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 3y - - - Johan den Dunnen 00470794
0000355682 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive 18y - - - Johan den Dunnen 00470795
0000355715 Glanzmann thrombasthenia GT1 see paper; ..., moderate Familial, autosomal recessive - 4y - - Johan den Dunnen 00470828
0000355716 Glanzmann thrombasthenia GT1 see paper; ..., moderate Familial, autosomal recessive - 1y - - Johan den Dunnen 00470829
0000355717 Glanzmann thrombasthenia GT1 see paper; ..., moderate Familial, autosomal recessive - 21y - - Johan den Dunnen 00470830
0000355718 Glanzmann thrombasthenia GT1 see paper; ..., mild Familial, autosomal recessive - 18y - - Johan den Dunnen 00470831
0000355719 Glanzmann thrombasthenia GT1 see paper; ..., moderate Familial, autosomal recessive - 14y - - Johan den Dunnen 00470832
0000355720 Glanzmann thrombasthenia GT1 see paper; ..., moderate Familial, autosomal recessive - 22y - - Johan den Dunnen 00470833
0000355721 Glanzmann thrombasthenia GT1 see paper; ..., mild Familial, autosomal recessive - 4y - - Johan den Dunnen 00470834
0000355722 Glanzmann thrombasthenia GT1 see paper; ..., moderate Familial, autosomal recessive - 44y - - Johan den Dunnen 00470835
0000355723 Glanzmann thrombasthenia GT1 see paper; ..., mild Familial, autosomal recessive - 5y - - Johan den Dunnen 00470836
0000355724 Glanzmann thrombasthenia GT1 see paper; ..., mild Familial, autosomal recessive - 5y - - Johan den Dunnen 00470837
0000355725 Glanzmann thrombasthenia GT1 see paper; ..., moderate Familial, autosomal recessive - 21y - - Johan den Dunnen 00470838
0000355726 Glanzmann thrombasthenia GT1 see paper; ..., moderate Familial, autosomal recessive - 2y - - Johan den Dunnen 00470839
0000355727 Glanzmann thrombasthenia GT1 see paper; ..., severe Familial, autosomal recessive - 1y - - Johan den Dunnen 00470840
0000355728 Glanzmann thrombasthenia GT1 see paper; ..., mild Familial, autosomal recessive - 3y - - Johan den Dunnen 00470841
0000355729 Glanzmann thrombasthenia GT1 see paper; ..., moderate Familial, autosomal recessive - 5y - - Johan den Dunnen 00470842
0000355730 Glanzmann thrombasthenia GT1 see paper; ..., moderate Familial, autosomal recessive - 12y - - Johan den Dunnen 00470843
0000355731 Glanzmann thrombasthenia GT1 see paper; ..., mild Familial, autosomal recessive - 32y - - Johan den Dunnen 00470844
0000355734 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470850
0000355735 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470851
0000355736 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470852
0000355737 Glanzmann thrombasthenia - - Familial, autosomal recessive - - - - Johan den Dunnen 00470853
0000355738 Glanzmann thrombasthenia - - Familial, autosomal recessive - - - - Johan den Dunnen 00470854
0000355739 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470855
0000355740 Glanzmann thrombasthenia - - Familial, autosomal recessive - - - - Johan den Dunnen 00470856
0000355741 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470857
0000355742 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470858
0000355743 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470859
0000355744 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470860
0000355745 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470861
0000355746 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470862
0000355747 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470863
0000355748 Glanzmann thrombasthenia - - Familial, autosomal recessive - - - - Johan den Dunnen 00470864
0000355749 Glanzmann thrombasthenia GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470865
0000355750 Glanzmann thrombasthenia - - Familial, autosomal recessive - - - - Johan den Dunnen 00470866
0000355751 Glanzmann thrombasthenia - - Familial, autosomal recessive - - - - Johan den Dunnen 00470867
0000355752 Glanzmann thrombasthenia GT2 - Familial, autosomal recessive - - - - Johan den Dunnen 00470868
0000355753 Glanzmann thrombasthenia GT2 - Familial, autosomal recessive - - - - Johan den Dunnen 00470869
0000355754 Glanzmann thrombasthenia - - Familial, autosomal recessive - - - - Johan den Dunnen 00470870
0000355755 Glanzmann thrombasthenia GT2 - Familial, autosomal recessive - - - - Johan den Dunnen 00470871
0000355756 Glanzmann thrombasthenia GT2 - Familial, autosomal recessive - - - - Johan den Dunnen 00470872
0000355757 Glanzmann thrombasthenia GT2 - Familial, autosomal recessive - - - - Johan den Dunnen 00470873
0000355758 Glanzmann thrombasthenia GT2 - Familial, autosomal recessive - - - - Johan den Dunnen 00470874
0000355759 Glanzmann thrombasthenia - - Familial, autosomal recessive - - - - Johan den Dunnen 00470875
0000355760 Glanzmann thrombasthenia - see paper; ..., lifelong mucocutaneous bleeding history Familial, autosomal recessive 73y - - - Johan den Dunnen 00470876
0000355761 Glanzmann thrombasthenia GT1 see paper; ..., epistaxes, gingival bleedings, ecchymoses Familial, autosomal recessive 14y - - - Johan den Dunnen 00470877
0000355762 Glanzmann thrombasthenia GT2 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00470878
0000355763 Glanzmann thrombasthenia GT2 see paper; ..., bleeding Familial, autosomal recessive 21y - - - Johan den Dunnen 00470880
0000355764 Glanzmann thrombasthenia GT1 see paper; ..., 9m-severe bruising, epistaxis Familial, autosomal recessive 05y - - - Johan den Dunnen 00470881
0000355765 thrombasthenia GT1 see pper; ..., 2y-recurrent epistaxis/purpura Familial, autosomal recessive 22y - - - Johan den Dunnen 00470882
0000355766 thrombasthenia GT1 see paper; ..., 4y-excessive bruising Familial, autosomal recessive 24y - - - Johan den Dunnen 00470883
0000355767 thrombasthenia - see paper; ..., 1d-epistaxis; excessive bruising, gastric hemorrhage, hematuria Familial, autosomal recessive 16y - - - Johan den Dunnen 00470884
0000355768 thrombasthenia GT1 see paper; ..., 3y-epistaxis, gingival hemorrhage, purpura Familial, autosomal recessive 03y - - - Johan den Dunnen 00470885
0000355769 thrombasthenia gt1 see paper; ..., life-long history moderate mucocutaneous bleeding Familial, autosomal recessive 40y - - - Johan den Dunnen 00470886
0000355770 thrombasthenia GT1 see paper; ... Familial, autosomal recessive 44y - - - Johan den Dunnen 00470887
0000355775 Glanzmann thrombasthenia GT1 see paper; ..., bleeding Familial, autosomal recessive - 01y - - Johan den Dunnen 00470894
0000355776 Glanzmann thrombasthenia GT1 see paper; ..., bleeding; strong family history Familial, autosomal recessive - 08y - - Johan den Dunnen 00470895
0000355777 Glanzmann thrombasthenia GT1 see paper; ..., bleeding Familial, autosomal recessive - - - - Johan den Dunnen 00470896
0000355778 Glanzmann thrombasthenia GT1 see paper; ..., from birth history of bleeding episodes, unprovoked bruising Familial, autosomal recessive 11y - - - Johan den Dunnen 00470897
0000355779 Glanzmann thrombasthenia GT1 see paper; ..., frequent mucocutaneous bleeding, transfusion being required shortly after birth; absence of platelet aggregation in response to ADP/epinephrine/thrombin/collagen; normal platelet agglutination with ristocetin; <0.02 normal platelet content of GPIIb–IIIa Familial, autosomal recessive 05y - - - Johan den Dunnen 00470898
0000355780 Glanzmann thrombasthenia GT1 see paper; ..., lifelong mucocutaneous bleeding, normal platelet count, prolonged bleeding time, absent platelet aggregation in response to multiple agonists Familial, autosomal recessive - - - - Johan den Dunnen 00470899
0000355804 bleeding disorder GT1 see paper; ..., easy bruising since birth, evere nasal bleeding irregular intervals; red cell transfusions required several times; menorrhagia since first menstruation Familial, autosomal recessive 38y - - - Johan den Dunnen 00470940
0000355805 bleeding disorder GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470942
0000355806 bleeding disorder GT1 - Familial, autosomal recessive - - - - Johan den Dunnen 00470943
0000355807 Glanzmann thrombasthenia GT2 significant bruising, persistant bleeding after surgery, major episodes of epistaxis, gingivorragia, tonsillar haemorrhage; absent platelet aggregation; WHO4 bleeding score 3 Familial, autosomal recessive 9y - - - Johan den Dunnen 00470944
0000355808 Glanzmann thrombasthenia GT2 sometimes severe with hospitalisation. epistaxis, ecchymoses, purpura since birth, gastrointestinal bleeding, excessive menstrual bleeding; absent platelet aggregation; WHO4 bleeding score 4 Familial, autosomal recessive 32y - - - Johan den Dunnen 00470945
0000355809 Glanzmann thrombasthenia LAD3 see paper; ..., severe bleeding, petechia and hematomas since childbirth, also fever and infections since childbirth; absent platelet aggregation; WHO4 bleeding score 4; moderate immunodeficiency. Familial, autosomal recessive 33y 06y - - Johan den Dunnen 00470946
0000355810 Glanzmann thrombasthenia GT2 epistaxis, easy bruising, post-traumatic bleeding, subarachnoid hemorrhage; absent platelet aggregation; WHO4 bleeding score 2 Familial, autosomal recessive 7y - - - Johan den Dunnen 00470947
0000355811 Glanzmann thrombasthenia GT2 easy bruising, gingivorragia. severe bleeding syndrome; absent platelet aggregation; WHO4 bleeding score 4 Familial, autosomal recessive 19y - - - Johan den Dunnen 00470948
0000355812 Glanzmann thrombasthenia GT2 easy bruising and epistaxis; absent platelet aggregation ADP, some response with other agonists; WHO4 bleeding score 1 Familial, autosomal recessive 18y - - - Johan den Dunnen 00470949
0000355813 Glanzmann thrombasthenia GT1 82y-deceased (lung cancer with brain metastasis); easy bruising, epistaxis, severe gastrointestinal bleeding in later life; absent platelet aggregation; WHO4 bleeding score 4 Familial, autosomal recessive 82y - - - Johan den Dunnen 00470950
0000355814 Glanzmann thrombasthenia GT1 mild lifelong bleeding; residual platelet aggregation; WHO4 bleeding score 1 Familial, autosomal recessive 45y - - - Johan den Dunnen 00470951
0000355815 Glanzmann thrombasthenia GT1 severe epistaxis, gingival bleeding, menorrhagia, spontaneous bruising; absent platelet aggregation; WHO4 bleeding score 3; skeletal defects Familial, autosomal recessive 54y - - - Johan den Dunnen 00470952
0000355816 Glanzmann thrombasthenia GT2 easy bruising, epistaxis, hematuria, heavy bleeding at menarche; absent platelet aggregation; WHO4 bleeding score 3; type 2 diabetes; Factor V Leiden Familial, autosomal recessive 61y - - - Johan den Dunnen 00470953
0000355817 Glanzmann thrombasthenia GT1 petechiae, moderate bleeding syndrome; absent platelet aggregation; Familial, autosomal recessive 14y - - - Johan den Dunnen 00470954
0000355818 Glanzmann thrombasthenia GT1 purpura, moderate cutaneous bleeding from birth, prolonged bleeding after tooth removal; absent platelet aggregation; WHO4 bleeding score 2 Familial, autosomal recessive 10y - - - Johan den Dunnen 00470955
0000355819 Glanzmann thrombasthenia GT1 bleeding from birth, ecchymoses, petechial, severe epistaxis, bleeding from teeth and gums. hematomas from exercise (ballet).; absent platelet aggregation; WHO4 bleeding score 3 Familial, autosomal recessive 35y - - - Johan den Dunnen 00470956
0000355820 Glanzmann thrombasthenia GT1 mild ecchymoses, easy bruising; residual platelet aggregation (high dose ADP, coll); WHO4 bleeding score 1 Familial, autosomal recessive 20y - - - Johan den Dunnen 00470957
0000355821 Glanzmann thrombasthenia GT1 menorraghia, epistaxis, easy bruising and gingivorrhagia; absent platelet aggregation; WHO4 bleeding score 2 Familial, autosomal recessive 44y - - - Johan den Dunnen 00470958
0000355822 Glanzmann thrombasthenia - epistaxis, occasional hematomas, hemarthrosis (knee); absent platelet aggregation; WHO4 bleeding score 1 Unknown 28y - - - Johan den Dunnen 00470959
0000355823 Glanzmann thrombasthenia GT1 epistaxis, gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 3 Familial, autosomal recessive 61y - - - Johan den Dunnen 00470960
0000355824 Glanzmann thrombasthenia GT1 easy bruising, gingivorrhagia; absent platelet aggregation; WHO4 bleeding score 2 Familial, autosomal recessive 13y - - - Johan den Dunnen 00470961
0000355825 Glanzmann thrombasthenia GT2 severe epistaxis, easy bruising, gingivorrhagia; absent platelet aggregation; WHO4 bleeding score 3 Familial, autosomal recessive 19y - - - Johan den Dunnen 00470962
0000355826 Glanzmann thrombasthenia GT1 post-traumatic hematomas and epistaxis, menorrhagia (linked to a uterine fibroma); absent platelet aggregation; WHO4 bleeding score 3 Familial, autosomal recessive 45y - - - Johan den Dunnen 00470963
0000355827 Glanzmann thrombasthenia GT1 81y-deceased; lifelong bleeding disorder - severe when young, gastrointestinal bleedings in later life; absent platelet aggregation; WHO4 bleeding score 4 Familial, autosomal recessive 81y - - - Johan den Dunnen 00470964
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.