General - gentesten Flashcards

(44 cards)

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
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
B4GALT7
18
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
CLCN1
19
OLWS ACAN B3GALNT2 B4GALT7 CLCN1 DDB2 EDNRB GBE1 GYS-1 HOXD3 ITGA2B LAMC2 LAMC3 MYH1 PPIB PMEL PLOD1 PRKDC RYR1 SERPINB11 SCN4A SLC5A3 TRPM1
EDNRB
19
SCC ACAN B3GALNT2 B4GALT7 CLCN1 DDB2 EDNRB GBE1 GYS-1 HOXD3 ITGA2B LAMC2 LAMC3 MYH1 PPIB PMEL PLOD1 PRKDC RYR1 SERPINB11 SCN4A SLC5A3 TRPM1
DDB2
20
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
TRPM1
20
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
GBE1
21
PSSM ACAN B3GALNT2 B4GALT7 CLCN1 DDB2 EDNRB GBE1 GYS-1 HOXD3 ITGA2B LAMC2 LAMC3 MYH1 PPIB PMEL PLOD1 PRKDC RYR1 SERPINB11 SCN4A SLC5A3 TRPM1
GYS-1
22
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
HOXD3
23
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
ITGA2B
24
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
LAMC2
25
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
LAMC3
26
HERDA ACAN B3GALNT2 B4GALT7 CLCN1 DDB2 EDNRB GBE1 GYS-1 HOXD3 ITGA2B LAMC2 LAMC3 MYH1 PPIB PMEL PLOD1 PRKDC RYR1 SERPINB11 SCN4A SLC5A3 TRPM1
PPIB
27
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
MYH1
27
FIS ACAN B3GALNT2 B4GALT7 CLCN1 DDB2 EDNRB GBE1 GYS-1 HOXD3 ITGA2B LAMC2 LAMC3 MYH1 PPIB PMEL PLOD1 PRKDC RYR1 SERPINB11 SCN4A SLC5A3 TRPM1
SLC5A3
28
MCOA ACAN B3GALNT2 B4GALT7 CLCN1 DDB2 EDNRB GBE1 GYS-1 HOXD3 ITGA2B LAMC2 LAMC3 MYH1 PPIB PMEL PLOD1 PRKDC RYR1 SERPINB11 SCN4A SLC5A3 TRPM1
PMEL
28
WFFS ACAN B3GALNT2 B4GALT7 CLCN1 DDB2 EDNRB GBE1 GYS-1 HOXD3 ITGA2B LAMC2 LAMC3 MYH1 PPIB PMEL PLOD1 PRKDC RYR1 SERPINB11 SCN4A SLC5A3 TRPM1
PLOD1
29
MH ACAN B3GALNT2 B4GALT7 CLCN1 DDB2 EDNRB GBE1 GYS-1 HOXD3 ITGA2B LAMC2 LAMC3 MYH1 PPIB PMEL PLOD1 PRKDC RYR1 SERPINB11 SCN4A SLC5A3 TRPM1
RYR1
30
SCID ACAN B3GALNT2 B4GALT7 CLCN1 DDB2 EDNRB GBE1 GYS-1 HOXD3 ITGA2B LAMC2 LAMC3 MYH1 PPIB PMEL PLOD1 PRKDC RYR1 SERPINB11 SCN4A SLC5A3 TRPM1
PRKDC
31
HWSD ACAN B3GALNT2 B4GALT7 CLCN1 DDB2 EDNRB GBE1 GYS-1 HOXD3 ITGA2B LAMC2 LAMC3 MYH1 PPIB PMEL PLOD1 PRKDC RYR1 SERPINB11 SCN4A SLC5A3 TRPM1
SERPINB11
32
HYPP ACAN B3GALNT2 B4GALT7 CLCN1 DDB2 EDNRB GBE1 GYS-1 HOXD3 ITGA2B LAMC2 LAMC3 MYH1 PPIB PMEL PLOD1 PRKDC RYR1 SERPINB11 SCN4A SLC5A3 TRPM1
SCN4A