1-10 Flashcards

1
Q

Familial Alzheimer

A

AD

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2
Q

Marfan Syndrome

A

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3
Q

Familial Hypercholesterolemia

A

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4
Q

Acondroplasia Dwarfism

A

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5
Q

Polydactyly

A

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6
Q

Syndactyly

A

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7
Q

Huntington

A

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8
Q

Ectrodactyly

A

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9
Q

Brachy dactyly syndrome

A

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10
Q

Neurofibromatosis 1 (NF1)

Neurofibromatosis 2 (NF2)

A

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11
Q

Osteogenesis inpefecta

A

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12
Q

Hurler syndrome

A

AR

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13
Q

Sheie شای

A

AR

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14
Q

Beta thalassemia

A

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15
Q

a-thalassemia

A

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16
Q

Gaucher’s disease گوشر

A

AR

17
Q

PKU فنیل کتونوری

A

AR

18
Q

Alkaptonuria or black urine disease

A

AR

19
Q

Galactosemia

A

AR

20
Q

Sickle cell anemia
کم خونی داسی شکل

A

AR

21
Q

Tay-Sachs disease
تی ساکس

A

AR

22
Q

Cystic fibrosis

A

AR

23
Q

Albinism

A

AR

24
Q

Ataxia-telangectasia
آتاکسی تلانژکتازی

A

AR

25
Q

Bloom syndrome

A

AR

26
Q

Color blindness or color vision deficiency (CVD)
دالتونیسم نسبی

A

XR

27
Q

DMD دیستروفی عضلانی دوشن

A

XR

28
Q

BMD دیستروفی عضلانی بکر

A

XR

29
Q

Testicular feminization زن نمای بیضه دار

A

XR

30
Q

Agammaglobulinemia - X linked

A

XR

31
Q

Lesch-nyhan syndrome

A

XR

32
Q

Vitamin D-resistant rickets or
Hypo phophatemia rickets
راشیتیسم مقاوم به ویتامین D

A

XD

33
Q

Rett syndrome

A

XD

34
Q

Incontinentia pigmenti Type 2 or IP2

A

XD

35
Q

Charcot-marie-tooth
X-linked

A

XD

36
Q

Focal dermal hypoplasia or
Goltz syndrome

A

XD