Phenotypes for disease #05084 (VWD (von Willebrand disease (VWD)))

127 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Diagnosis/Definite     

Protein     

Protein/Multimer_profile     

BleedingScore     

BleedingScore/Tool     

Phenotype details     

Owner     

Individual ID     
0000038730 - Unknown - VWF:Ag 10; VWF:RCo <1; VWF:CB <1 ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00037580
0000066757 - Unknown - - ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00087230
0000066758 - Unknown - - ? (unknown; low res);? (unknown; high res) - - - Daniel J Hampshire 00087231
0000081205 - Familial, autosomal dominant - VWF:Ag 11; VWF:RCo 9; FVIII:C 25 Relative decrease in HMW (low res);? (unknown; high res) - - - Daniel J Hampshire 00103073
0000184475 - Unknown - VWF:Ag 36; VWF:RCo 49; FVIII:C 101; VWF:CB 46 Normal (low res);? (unknown; high res) 3 ISTH-BAT - Irene Corrales Insa 00244509
0000184798 - Unknown - VWF:Ag 104; VWF:RCo 90; FVIII:C 70; VWF:CB 82 Normal (low res);? (unknown; high res) 0 ISTH-BAT - Irene Corrales Insa 00244832
0000184799 - Unknown - VWF:Ag 46; VWF:RCo 19.8; FVIII:C 43; VWF:CB 25 ? (unknown; low res);? (unknown; high res) 3 ISTH-BAT - Irene Corrales Insa 00244833
0000184800 - Unknown - VWF:Ag 42; VWF:RCo 38.5; FVIII:C 55; VWF:CB 33 Normal (low res);? (unknown; high res) 0 ISTH-BAT - Irene Corrales Insa 00244834
0000184801 - Unknown - VWF:Ag 75; VWF:RCo 62; FVIII:C 48; VWF:CB 56 Normal (low res);? (unknown; high res) 0 ISTH-BAT - Irene Corrales Insa 00244835
0000184802 - Unknown - VWF:Ag 34; VWF:RCo 9.1; FVIII:C 55; VWF:CB 17 Relative decrease in HMW (low res);? (unknown; high res) 9 ISTH-BAT - Irene Corrales Insa 00244836
0000184803 - Unknown - VWF:Ag 29; VWF:RCo 12; FVIII:C 41; VWF:CB 17 Relative decrease in HMW (low res);? (unknown; high res) 3 ISTH-BAT - Irene Corrales Insa 00244837
0000184804 - Unknown - VWF:Ag 64; VWF:RCo 54.5; FVIII:C 78; VWF:CB 53 Normal (low res);? (unknown; high res) 3 ISTH-BAT - Irene Corrales Insa 00244838
0000184805 - Unknown - VWF:Ag 46; VWF:RCo 42.7; FVIII:C 72; VWF:CB 48 Normal (low res);? (unknown; high res) 0 ISTH-BAT - Irene Corrales Insa 00244839
0000184806 - Unknown - VWF:Ag 15; VWF:RCo 5; FVIII:C 15; VWF:CB 4.6 Relative decrease in HMW (low res);? (unknown; high res) 5 ISTH-BAT - Irene Corrales Insa 00244840
0000184807 - Unknown - VWF:Ag 98; VWF:RCo 97; FVIII:C 88; VWF:CB 96 Normal (low res);? (unknown; high res) 0 ISTH-BAT - Irene Corrales Insa 00244841
0000236842 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.1 - - - epistaxis, easy bruising, bleeding from minor wounds, muscle haematomas Hamideh Yadegari 00311589
0000236843 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:1 - - - easy bruising, bleeding from oral cavity Hamideh Yadegari 00311590
0000236844 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.7 - - - easy bruising, bleeding from minor wounds Hamideh Yadegari 00311591
0000236845 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:1.4 - - - epistaxis, easy bruising, bleeding from minor wounds Hamideh Yadegari 00311592
0000236846 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:2.2 - - - epistaxis, easy bruising Hamideh Yadegari 00311593
0000236847 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.3 - - - epistaxis, easy bruising, bleeding from minor wounds, bleeding from oral cavity, bleeding after tooth extraction Hamideh Yadegari 00311594
0000236848 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:1.1 - - - no bleeding symptoms Hamideh Yadegari 00311595
0000236849 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:<1 - - - easy bruising, bleeding from minor wounds, bleeding from oral cavity, bleeding after tooth extraction, muscle haematomas Hamideh Yadegari 00311596
0000236850 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.2 - - - menorrhagia Hamideh Yadegari 00311597
0000236851 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:3.7 - - - - Hamideh Yadegari 00311598
0000236852 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:<1 - - - easy bruising, muscle haematomas Hamideh Yadegari 00311599
0000236853 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:<1 - - - epistaxis, bleeding from oral cavity Hamideh Yadegari 00311600
0000236854 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:1.7 - - - easy bruising Hamideh Yadegari 00311601
0000236855 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:1.33 - - - easy bruising Hamideh Yadegari 00311602
0000236856 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1 - - - epistaxis, easy bruising, bleeding from oral cavity, bleeding after tooth extraction Hamideh Yadegari 00311603
0000236857 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.1 - - - epistaxis, easy bruising, bleeding from minor wounds Hamideh Yadegari 00311604
0000236858 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.6 - - - easy bruising Hamideh Yadegari 00311605
0000236859 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:1.1 - - - easy bruising Hamideh Yadegari 00311606
0000236860 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.1 - - - epistaxis, easy bruising, bleeding from minor wounds, bleeding from oral cavity, bleeding after tooth extraction Hamideh Yadegari 00311607
0000236861 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:2.0 - - - easy bruising, bleeding from minor wounds, bleeding after tooth extraction Hamideh Yadegari 00311608
0000236862 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:<1 - - - bleeding from minor wounds, bleeding after tooth extraction, joint bleeding Hamideh Yadegari 00311609
0000236863 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1 - - - easy bruising, muscle haematomas Hamideh Yadegari 00311610
0000236864 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:2.5 - - - epistaxis, easy bruising, bleeding from minor wounds Hamideh Yadegari 00311611
0000236865 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.5 - - - easy bruising, bleeding from minor wounds, bleeding from oral cavity, bleeding after tooth extraction, joint bleeding, muscle haematomas Hamideh Yadegari 00311612
0000236866 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:2.0 - - - epistaxis, easy bruising, bleeding from minor wounds, bleeding from oral cavity, bleeding after tooth extraction, joint bleeding Hamideh Yadegari 00311613
0000236867 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:<1 - - - epistaxis, easy bruising, bleeding from minor wounds Hamideh Yadegari 00311614
0000236868 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:2.2 - - - easy bruising, bleeding from minor wounds Hamideh Yadegari 00311615
0000236869 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:1.5 - - - epistaxis, easy bruising, bleeding from minor wounds Hamideh Yadegari 00311616
0000236870 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.1 - - - easy bruising, bleeding from minor wounds, bleeding from oral cavity Hamideh Yadegari 00311617
0000236871 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:<1 - - - easy bruising Hamideh Yadegari 00311618
0000236872 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:<1 - - - easy bruising, bleeding from minor wounds, bleeding after tooth extraction Hamideh Yadegari 00311619
0000236873 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.1 - - - easy bruising Hamideh Yadegari 00311620
0000236874 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.4 - - - epistaxis, easy bruising, bleeding from minor wounds, joint bleeding Hamideh Yadegari 00311621
0000236875 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:<1 - - - easy bruising, bleeding from minor wounds, bleeding after tooth extraction Hamideh Yadegari 00311622
0000236876 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:2.5 - - - easy bruising, bleeding from minor wounds Hamideh Yadegari 00311623
0000236877 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:2.0 - - - easy bruising, menorrhagia Hamideh Yadegari 00311624
0000236878 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.2 - - - epistaxis, easy bruising, bleeding from minor wounds Hamideh Yadegari 00311625
0000236879 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:2.4 - - - easy bruising, menorrhagia Hamideh Yadegari 00311626
0000236880 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:2.5 - - - easy bruising, menorrhagia Hamideh Yadegari 00311627
0000236881 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:3 - - - - Hamideh Yadegari 00311628
0000236882 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:2.6 - - - epistaxis, easy bruising, bleeding from oral cavity, bleeding after tooth extraction Hamideh Yadegari 00311629
0000236883 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:2.9 - - - epistaxis, easy bruising, bleeding from minor wounds, bleeding from oral cavity, bleeding after tooth extraction Hamideh Yadegari 00311630
0000236884 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:2.7 - - - - Hamideh Yadegari 00311631
0000236885 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:2.5 - - - epistaxis, easy bruising, bleeding from minor wounds, joint bleeding Hamideh Yadegari 00311632
0000236886 VWD Familial, autosomal recessive VWD3 VWF_Ag:<3 , FVIII_C:1.9 - - - menorrhagia, muscle haematomas, CNS bleeding Hamideh Yadegari 00311633
0000236887 VWD Familial, autosomal recessive VWD3 VWF_Ag:≤3 , FVIII_C:1.4 - - - epistaxis, easy bruising, bleeding from minor wounds, muscle haematomas Hamideh Yadegari 00311634
0000236888 VWD Unknown VWD3 VWF_Ag:<3 , FVIII_C:6.6 - - - epistaxis, easy bruising, bleeding from minor wounds, bleeding from oral cavity, joint bleeding, muscle haematomas Hamideh Yadegari 00311635
0000236889 VWD Unknown VWD3 VWF_Ag:≤3 , FVIII_C:1.1 - - - easy bruising, bleeding from minor wounds, bleeding from oral cavity, menorrhagia, CNS bleeding Hamideh Yadegari 00311636
0000236890 VWD Familial, autosomal recessive VWD1 VWF_Ag:9, FVIII_C:35, VWF_GPIb:6 - - - see paper; ..., normal multimer size distribution, closure time PFA-collagen/ADP >300s Johan den Dunnen 00311637
0000236891 VWD Familial, autosomal recessive VWD1 VWF_Ag:VWF_Ag:44, Rco:33, FVIII_C:54 - - - - Johan den Dunnen 00311638
0000236892 VWD Familial, autosomal recessive VWD1 VWF_Ag:60, Rco:51, FVIII_C:83 - - - - Johan den Dunnen 00311639
0000236893 VWD Familial, autosomal recessive VWD1 VWF_Ag:43, Rco:, FVIII_C:96 - - - - Johan den Dunnen 00311640
0000236894 VWD Familial, autosomal recessive VWD1 VWF_Ag:56, Rco:, FVIII_C:48 - - - - Johan den Dunnen 00311641
0000236895 VWD Familial, autosomal recessive VWD1 VWF_Ag:15, Rco:10, FVIII_C:15 - - - - Johan den Dunnen 00311642
0000236896 VWD Familial, autosomal recessive VWD1 VWF_Ag:10, Rco:10, FVIII_C:9 - - - - Johan den Dunnen 00311643
0000236897 VWD Familial, autosomal recessive VWD1 VWF_Ag:59, Rco:52, FVIII_C:60 - - - - Johan den Dunnen 00311644
0000236898 VWD Familial, autosomal recessive VWD1 VWF_Ag:44, Rco:50, FVIII_C:55 - - - - Johan den Dunnen 00311645
0000236899 VWD Familial, autosomal recessive VWD1 VWF_Ag:49, Rco:42, FVIII_C:22 - - - - Johan den Dunnen 00311646
0000236900 VWD Familial, autosomal recessive VWD1 VWF_Ag:38, Rco:30, FVIII_C:22,4 - - - - Johan den Dunnen 00311647
0000236901 VWD Familial, autosomal recessive VWD1 VWF_Ag:20, Rco:14, FVIII_C:26 - - - - Johan den Dunnen 00311648
0000236902 VWD Familial, autosomal recessive VWD1 VWF_Ag:20, Rco:14, FVIII_C:11 - - - - Johan den Dunnen 00311649
0000236903 VWD Familial, autosomal recessive VWD1 VWF_Ag:16, Rco:10, FVIII_C:17 - - - - Johan den Dunnen 00311650
0000236904 VWD Familial, autosomal recessive VWD1 VWF_Ag:11, Rco:8, FVIII_C:17 - - - - Johan den Dunnen 00311651
0000236905 VWD Familial, autosomal recessive VWD1 VWF_Ag:65, Rco:52, FVIII_C:79 - - - - Johan den Dunnen 00311652
0000236906 VWD Familial, autosomal recessive VWD1 VWF_Ag:37, Rco:43, FVIII_C: - - - - Johan den Dunnen 00311653
0000236907 VWD Familial, autosomal recessive VWD1 VWF_Ag:29, Rco:22, FVIII_C:58 - - - - Johan den Dunnen 00311654
0000236908 VWD Familial, autosomal recessive VWD1 VWF_Ag:9, Rco:4, FVIII_C: - - - - Johan den Dunnen 00311655
0000236909 VWD Familial, autosomal recessive VWD1 VWF_Ag:77, Rco:60, FVIII_C:119 - - - - Johan den Dunnen 00311656
0000236910 VWD Familial, autosomal recessive VWD2A VWF_Ag:17–33, Rco:<10–18, FVIII_C:21–32 - - - - Johan den Dunnen 00311657
0000236911 VWD Familial, autosomal recessive VWD2A VWF_Ag:11, Rco:6, FVIII_C:10 - - - - Johan den Dunnen 00311658
0000236912 VWD Familial, autosomal recessive VWD2A VWF_Ag:3, Rco:<6, FVIII_C:5 - - - - Johan den Dunnen 00311659
0000236913 VWD Familial, autosomal recessive VWD2N, atypical VWF_Ag:3, Rco:<6, FVIII_C:35 - - - - Johan den Dunnen 00311660
0000236914 VWD Familial, autosomal recessive VWD2A VWF_Ag:33, Rco:15, FVIII_C:30 - - - - Johan den Dunnen 00311661
0000236915 VWD Familial, autosomal recessive VWD2A VWF_Ag:90, Rco:25, FVIII_C:45 - - - - Johan den Dunnen 00311662
0000236916 VWD Familial, autosomal recessive VWD2A VWF_Ag:25, Rco:13, FVIII_C:20 - - - - Johan den Dunnen 00311663
0000236917 VWD Familial, autosomal recessive VWD2A VWF_Ag:20, Rco:8, FVIII_C:39 - - - - Johan den Dunnen 00311664
0000236918 VWD Familial, autosomal recessive VWD2A VWF_Ag:17, Rco:9, FVIII_C:1.9 - - - - Johan den Dunnen 00311665
0000236919 VWD Familial, autosomal recessive VWD2A VWF_Ag:22, Rco:13, FVIII_C:42 - - - - Johan den Dunnen 00311666
0000236920 VWD Familial, autosomal recessive VWD2A VWF_Ag:13, Rco:7, FVIII_C:22 - - - - Johan den Dunnen 00311667
0000236921 VWD Familial, autosomal recessive VWD2A VWF_Ag:12, Rco:<6, FVIII_C:27 - - - - Johan den Dunnen 00311668
0000236922 VWD Familial, autosomal recessive VWD2A VWF_Ag:42, Rco:17, FVIII_C:46 - - - - Johan den Dunnen 00311669
0000236923 VWD Familial, autosomal recessive VWD2A VWF_Ag:39, Rco:<6, FVIII_C:22 - - - - Johan den Dunnen 00311670
0000236924 VWD Familial, autosomal recessive VWD2B VWF_Ag:50, Rco:26, FVIII_C:57 - - - - Johan den Dunnen 00311671
0000236925 VWD Familial, autosomal recessive VWD2B VWF_Ag:50, Rco:24, FVIII_C:29 - - - - Johan den Dunnen 00311672
0000236926 VWD Familial, autosomal recessive VWD2B VWF_Ag:75, Rco:56, FVIII_C:55 - - - - Johan den Dunnen 00311673
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