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Genetics > disease mode of inheritance > Flashcards

disease mode of inheritance Flashcards

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Biology 101 flashcards
1
Q

achondroplasia

A

AD

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2
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PCKD (polycystic kidney disease )

A

AD type

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3
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FAP

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4
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familial hypercholestrolemia

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5
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heriditary hemorrhagic telangiectasia

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6
Q

heridatry spherocytosis

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7
Q

huntignton

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8
Q

li FRAUMENI

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9
Q

marfan

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10
Q

multiple endocrine neoplasia

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11
Q

myotonic dystophy

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12
Q

neurfibromatosis type 1

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13
Q

neurofibromatosis type 2

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14
Q

tuberous sclerosis

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15
Q

von hippel lindau disease

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16
Q

albinism

A

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17
Q

ARPKD

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18
Q

cystic fibrosis

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19
Q

friedrich ataxia

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20
Q

glycogen storage diseae

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21
Q

hemochromatosis

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22
Q

kartagener syndrome

A

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23
Q

pku

A

AR

24
Q

sickle cells disease

A

AR

25
Q

sphigolipidosis except fabry

A

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26
Q

thalassemias

A

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27
Q

wilsons disese

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28
Q

tay sachs disease

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29
Q

congenital deafness

A

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30
Q

SCID

A

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31
Q

alkaptonuria

A

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32
Q

xeroderma pigmentosum

A

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33
Q

A1 anti trypsin

A

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34
Q

galactosemia

A

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35
Q

orinithine transcarbomyolase defi

A

X-linked recessive

36
Q

fabry

A

X-linked recessive

37
Q

WISKOTT ALDRICH SYNDROME

A

X-linked recessive

38
Q

OCULAR ALBINISM

A

X-linked recessive

39
Q

G6PD

A

X-linked recessive

40
Q

hunter disease

A

X-linked recessive

41
Q

hemphilia

A

X-linked recessive

42
Q

lych nyhan

A

X-linked recessive

43
Q

duchene muscular dystrophy

A

X-linked recessive

44
Q

bekker muscular dystophy

A

X-linked recessive

45
Q

mccune albright syndrome

A

mocaism - bone, endocrine problems and cafe au lait spots

46
Q

triple repeat

A

myotonic dystrophy
friendrich ataxia
fragile X
huntigton

47
Q

trisomy

A

down syndrome - 21
edward -18
patau -13

48
Q

deletion syndrome

A

degeorges syndrome
cri du chat
william

49
Q

rett syndrome

A

X linked Dominant

50
Q

incontentia pigmentei

A

X linked Dominant

51
Q

vit D resistant ricketsiea

A

X linked Dominant

52
Q

Leber optic hereditary neuropathy

A

mitochondrial

53
Q

MERRF

A

mitochondrial (myoclonic epilepsy with ragged red fibers )

54
Q

MELAS

A

mitochondrial ( mitochondrial encephlopathy Lactic acidosis and stroke)

Genetics (20 decks)

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