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

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Diagnosis/Initial: initial diagnosis, before molecular testing

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Protein: VWF levels (IU/dL)

Protein/Multimer_profile: Multimer profile (low resolution / high resolution)
All options:

? (unknown; low res)
Normal (low res)
Ultra-large (low res)
Relative decrease in HMW (low res)
Absent HMW (low res)
Absent (low res)
Increased dimer (low res)
? (unknown; high res)
Normal satellite bands (high res)
Enhanced satellite bands (high res)
Reduced/absent satellite bands (high res)
Diffuse satellite bands (high res)
Aberrant mobility (high res)

BleedingScore: Bleeding score

BleedingScore/Tool: Bleeding score tool

Phenotype details: Additional phenotypic information

How to query this table

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Operator	Column type	Example	Matches
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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
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=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
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>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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129 entries on 2 pages. Showing entries 1 - 100.

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Phenotype 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)	-	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)	-	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)	-	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)	-	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)	-	ISTH-BAT	-	Irene Corrales Insa	00244841
0000236842	-	Familial, autosomal recessive	-	VWF:Ag ≤3; FVIII:C 1.1	? (unknown; low res);? (unknown; high res)	-	-	-	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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Global Variome shared LOVD

GDPD1 (glycerophosphodiester phosphodiesterase doma...)