Genetic/Mendelian D/O P2 Flashcards

1
Q

Describe the following genetic disease in terms of: basic abnormality/pathogens is, clinical features, principal morphology:

Lysosomal storage disease

A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Describe the following genetic disease in terms of: basic abnormality/pathogens is, clinical features, principal morphology:

Von Gierke Disease

A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Describe the following genetic disease in terms of: basic abnormality/pathogens is, clinical features, principal morphology:

Pompe disease.

A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Describe the following genetic disease in terms of: basic abnormality/pathogens is, clinical features, principal morphology:

Neurofibromatosis

A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Describe the following genetic disease in terms of: basic abnormality/pathogens is, clinical features, principal morphology:

Newman- Pick Disease

A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Describe the following genetic disease in terms of: basic abnormality/pathogens is, clinical features, principal morphology:

Tay Sachs Disease

A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Describe the following genetic disease in terms of: basic abnormality/pathogens is, clinical features, principal morphology:

Marfan Syndrome

A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Describe the following genetic disease in terms of: basic abnormality/pathogens is, clinical features, principal morphology:

Alkaptonuria

A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Describe the following genetic disease in terms of: basic abnormality/pathogens is, clinical features, principal morphology:

Gaucherie Disease

A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Describe the following genetic disease in terms of: basic abnormality/pathogens is, clinical features, principal morphology:

Ehlers-Danlos Syndrome

A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly