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
19
Q
AA disorders (PKU)
A
AD
20
Q
Edward
A
Chromosomal disorder
21
Q
Sickle Cell
A
AR
22
Q
Hemophilia
A
XLR
23
Q
G6PD
A
XLR
24
Q
Patau
A
chromosomal disorder
25
Lesch-Nyhan
XLR
26
Obesity
Polygenic
27
Neural tube defects
Polygenic
28
Turner syndrome
Chromosomal
29
Schizophrenia
Polygenic
30
Duchenne
XLR
31
Wiskott-Aldrich
XLR
32
Bruton agammaglobulinemia
XLR
33
Fragile X
XLR
34
Children's Polycystic Kidney Dz
AR
35
Wilson's
AR
36
Bipolar
Polygenic
37
Ischemic heart disease
Polygenic
38
Alcoholism
Polygenic
39
Hemochromatosis
AR
40
Adrenogenital syndrome (e.g., 21-hydroxylase)
AR
41
Familial polyposis coli
AD
42
Adult polycystic kidney disease
AD
43
Hereditary spherocytosis
AD
44
Tuberous sclerosis
AD
45
Myotonic dystrophy
AD
Genetic Disorders
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