disease mode of inheritance Flashcards
1
Q
achondroplasia
A
AD
2
Q
PCKD (polycystic kidney disease )
A
AD type
3
Q
FAP
A
AD
4
Q
familial hypercholestrolemia
A
AD
5
Q
heriditary hemorrhagic telangiectasia
A
AD
6
Q
heridatry spherocytosis
A
AD
7
Q
huntignton
A
AD
8
Q
li FRAUMENI
A
AD
9
Q
marfan
A
AD
10
Q
multiple endocrine neoplasia
A
AD
11
Q
myotonic dystophy
A
AD
12
Q
neurfibromatosis type 1
A
AD
13
Q
neurofibromatosis type 2
A
AD
14
Q
tuberous sclerosis
A
AD
15
Q
von hippel lindau disease
A
AD
16
Q
albinism
A
AR
17
Q
ARPKD
A
AR
18
Q
cystic fibrosis
A
AR
19
Q
friedrich ataxia
A
AR
20
Q
glycogen storage diseae
A
AR
21
Q
hemochromatosis
A
AR
22
Q
kartagener syndrome
A
AR
23
Q
pku
A
AR
24
Q
sickle cells disease
A
AR
25
sphigolipidosis except fabry
AR
26
thalassemias
AR
27
wilsons disese
AR
28
tay sachs disease
AR
29
congenital deafness
AR
30
SCID
AR
31
alkaptonuria
AR
32
xeroderma pigmentosum
AR
33
A1 anti trypsin
AR
34
galactosemia
AR
35
orinithine transcarbomyolase defi
X-linked recessive
36
fabry
X-linked recessive
37
WISKOTT ALDRICH SYNDROME
X-linked recessive
38
OCULAR ALBINISM
X-linked recessive
39
G6PD
X-linked recessive
40
hunter disease
X-linked recessive
41
hemphilia
X-linked recessive
42
lych nyhan
X-linked recessive
43
duchene muscular dystrophy
X-linked recessive
44
bekker muscular dystophy
X-linked recessive
45
mccune albright syndrome
mocaism - bone, endocrine problems and cafe au lait spots
46
triple repeat
myotonic dystrophy
friendrich ataxia
fragile X
huntigton
47
trisomy
down syndrome - 21
edward -18
patau -13
48
deletion syndrome
degeorges syndrome
cri du chat
william
49
rett syndrome
X linked Dominant
50
incontentia pigmentei
X linked Dominant
51
vit D resistant ricketsiea
X linked Dominant
52
Leber optic hereditary neuropathy
mitochondrial
53
MERRF
mitochondrial (myoclonic epilepsy with ragged red fibers )
54
MELAS
mitochondrial ( mitochondrial encephlopathy Lactic acidosis and stroke)
