Disorders Flashcards
1
Q
von Willebrand
A
AD
2
Q
Neurofibromatosis
A
AD
3
Q
MEN I/II
A
AD
4
Q
Achondroplasia
A
AD
5
Q
Spingolipidoses (Tay Sachs, Gaucher)
A
AR
6
Q
Fabry (Sphingolipidosis exception)
A
XLR
7
Q
Mucopolysaccharidoses (Hurler)
A
AR
8
Q
Hunter (mucopolysaccharidosis exception)
A
XLR
9
Q
Glycogen storage diseases (McArdle)
A
AR
10
Q
CF
A
AR
11
Q
Marfan
A
AD
12
Q
Huntington
A
AD
13
Q
Pyloric Stenosis
A
Polygenic
14
Q
Cleft lip/palate
A
Polygenic
15
Q
Type 2 DM
A
Polygenic
16
Q
Down
A
Chromosomal disorder
17
Q
Familial hypercholesterolemia
A
AD
18
Q
Galactosemia
A
AR