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General - gentesten Flashcards

1
Q

ACAN

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

dwerggroei

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2
Q

B4GALT7

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

dwerggroei Fries

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2
Q

B3GALNT2

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

Waterhoofd Fries

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3
Q

CLCN1

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

Myotonia congenita (New Forest)

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4
Q

EDNRB

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

OLWS

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4
Q

DDB2

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

SCC

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5
Q

GBE1

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

Glycogen branching enzyme deficiency

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6
Q

LAMC3

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

JEB-2

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6
Q

GYS-1

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

PSSM

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6
Q

HOXD3

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

OAAM (Arabieren)

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7
Q

PLOD1

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

WFFS

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7
Q

ITGA2B

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

Glanzmann Thromboasthenie

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8
Q

LAMC2

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

JEB-1

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9
Q

MYH1

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

Myosin-Heavy Chain Myopathy

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10
Q

PPIB

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

HERDA

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10
Q

PMEL

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

MCOA

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11
Q

TRPM1

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

A

Nachtblindheid Appaloosa

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11
Q

PRKDC

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

12
Q

RYR1

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

13
Q

SERPINB11

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

13
Q

SLC5A3

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

14
Q

SCN4A

dwerggroei
dwerggroei Fries
FIS
Glanzmann Thromboasthenie
Glycogen branching enzyme deficiency
HERDA
HWSD
HYPP
JEB-1
JEB-2
MCOA
MH
Myosin-Heavy Chain Myopathy
Myotonia congenita (New Forest)
Nachtblindheid Appaloosa
OAAM (Arabieren)
OLWS
PSSM
SCC
SCID
Waterhoofd Fries
WFFS

15
Q

Waterhoofd Fries

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

16
Q

dwerggroei

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

17
Q

dwerggroei Fries

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

18
Q

Myotonia congenita (New Forest)

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

19
Q

OLWS

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

19
Q

SCC

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

20
Q

Nachtblindheid Appaloosa

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

20
Q

Glycogen branching enzyme deficiency

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

21
Q

PSSM

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

22
Q

OAAM (Arabieren)

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

23
Q

Glanzmann Thromboasthenie

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

24
Q

JEB-1

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

25
Q

JEB-2

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

26
Q

HERDA

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

27
Q

Myosin-Heavy Chain Myopathy

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

27
Q

FIS

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

28
Q

MCOA

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

28
Q

WFFS

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

29
Q

MH

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

30
Q

SCID

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

31
Q

HWSD

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

32
Q

HYPP

ACAN
B3GALNT2
B4GALT7
CLCN1
DDB2
EDNRB
GBE1
GYS-1
HOXD3
ITGA2B
LAMC2
LAMC3
MYH1
PPIB
PMEL
PLOD1
PRKDC
RYR1
SERPINB11
SCN4A
SLC5A3
TRPM1

General (18 decks)

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